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Tpmt thiopurine methyltransferase [ Mus musculus (house mouse) ]

Gene ID: 22017, updated on 2-Nov-2024

Summary

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Official Symbol
Tpmtprovided by MGI
Official Full Name
thiopurine methyltransferaseprovided by MGI
Primary source
MGI:MGI:98812
See related
Ensembl:ENSMUSG00000021376 AllianceGenome:MGI:98812
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables thiopurine S-methyltransferase activity. Predicted to be involved in xenobiotic metabolic process. Predicted to be located in cytoplasm. Is expressed in metanephros. Used to study thiopurine S-methyltransferase deficiency. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia; alopecia; leukopenia; and thiopurine S-methyltransferase deficiency. Orthologous to human TPMT (thiopurine S-methyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in kidney adult (RPKM 7.3), genital fat pad adult (RPKM 5.0) and 23 other tissues See more
Orthologs
human all
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Genomic context

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See Tpmt in Genome Data Viewer
Location:
13 A5; 13 24.5 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (47175463..47196833, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (47021987..47043338, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene coronin, actin binding protein 1C pseudogene Neighboring gene NHL repeat containing 1 Neighboring gene NLR family, pyrin domain containing 4B pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E1875 Neighboring gene lysine (K)-specific demethylase 1B Neighboring gene DEK proto-oncogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Pharmacogenetic variants in TPMT alter cellular responses to cisplatin in inner ear cell lines. Bhavsar AP, et al. PLoS One, 2017. PMID 28406961, Free PMC Article
  2. Mouse thiopurine methyltransferase pharmacogenetics: monogenic inheritance. Otterness DM, et al. J Pharmacol Exp Ther, 1987 Mar. PMID 3559976
  3. Analysis of variation in mouse TPMT genotype, expression and activity. Watters JW, et al. Pharmacogenetics, 2004 Apr. PMID 15083069
  4. Differential effects of targeted disruption of thiopurine methyltransferase on mercaptopurine and thioguanine pharmacodynamics. Hartford C, et al. Cancer Res, 2007 May 15. PMID 17510427
  5. Host thiopurine methyltransferase status affects mercaptopurine antileukemic effectiveness in a murine model. Ramsey LB, et al. Pharmacogenet Genomics, 2014 May. PMID 24710003, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.
    Title: Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.
  2. With the significant mitigation of TPMT wild type-expressing cells to cisplatin cytotoxicity, findings demonstrate a drug-gene interaction between increased TPMT activity and decreased susceptibility to cisplatin-induced toxicity of inner ear cells.
    Title: Pharmacogenetic variants in TPMT alter cellular responses to cisplatin in inner ear cell lines.
  3. These findings support the notion that germline polymorphisms in Tpmt affect not only host tissue toxicity but also antitumor effectiveness.
    Title: Host thiopurine methyltransferase status affects mercaptopurine antileukemic effectiveness in a murine model.
  4. suggestion that differential mouse TPMT activity is due to variation in mRNA expression
    Title: Analysis of variation in mouse TPMT genotype, expression and activity.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 
  • Targeted (1)  1 citation

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables S-adenosyl-L-methionine binding ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
enables thiopurine S-methyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  
involved_in xenobiotic metabolic process ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
thiopurine S-methyltransferase
NP_058065.2
XP_006516988.1
XP_006516989.1
XP_011242698.1
XP_011242699.1
XP_011242700.1
XP_011242701.1
XP_030103101.1
XP_030103103.1
XP_030103104.1
XP_036013923.1
XP_036013925.1
XP_036013926.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_016785.2 → NP_058065.2  thiopurine S-methyltransferase

    See identical proteins and their annotated locations for NP_058065.2

    Status: VALIDATED

    Source sequence(s)
    AC096628, AF037044, CF106558
    Consensus CDS
    CCDS26488.1
    UniProtKB/Swiss-Prot
    O55060, Q9JIL7, Q9QUG7
    UniProtKB/TrEMBL
    A0A0R4J018
    Related
    ENSMUSP00000021806.4, ENSMUST00000021806.11
    Conserved Domains (1) summary
    pfam05724
    Location:19 → 240
    TPMT; Thiopurine S-methyltransferase (TPMT)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    47175463..47196833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244399.2 → XP_011242701.1  thiopurine S-methyltransferase isoform X2

    See identical proteins and their annotated locations for XP_011242701.1

    Conserved Domains (1) summary
    pfam05724
    Location:19 → 203
    TPMT; Thiopurine S-methyltransferase (TPMT)

  2. XM_030247241.2 → XP_030103101.1  thiopurine S-methyltransferase isoform X3

    Conserved Domains (1) summary
    cl17173
    Location:33 → 162
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  3. XM_011244397.3 → XP_011242699.1  thiopurine S-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011242699.1

    Conserved Domains (1) summary
    pfam05724
    Location:43 → 227
    TPMT; Thiopurine S-methyltransferase (TPMT)

  4. XM_036158032.1 → XP_036013925.1  thiopurine S-methyltransferase isoform X3

    Conserved Domains (1) summary
    cl17173
    Location:33 → 162
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  5. XM_011244398.3 → XP_011242700.1  thiopurine S-methyltransferase isoform X2

    See identical proteins and their annotated locations for XP_011242700.1

    Conserved Domains (1) summary
    pfam05724
    Location:19 → 203
    TPMT; Thiopurine S-methyltransferase (TPMT)

  6. XM_036158033.1 → XP_036013926.1  thiopurine S-methyltransferase isoform X4

    Conserved Domains (1) summary
    cl17173
    Location:20 → 153
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  7. XM_036158030.1 → XP_036013923.1  thiopurine S-methyltransferase isoform X3

    Conserved Domains (1) summary
    cl17173
    Location:33 → 162
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  8. XM_011244396.3 → XP_011242698.1  thiopurine S-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_011242698.1

    Conserved Domains (1) summary
    pfam05724
    Location:43 → 227
    TPMT; Thiopurine S-methyltransferase (TPMT)

  9. XM_006516926.3 → XP_006516989.1  thiopurine S-methyltransferase isoform X6

    See identical proteins and their annotated locations for XP_006516989.1

    UniProtKB/Swiss-Prot
    O55060, Q9JIL7, Q9QUG7
    UniProtKB/TrEMBL
    A0A0R4J018
    Conserved Domains (1) summary
    pfam05724
    Location:19 → 240
    TPMT; Thiopurine S-methyltransferase (TPMT)

  10. XM_030247243.2 → XP_030103103.1  thiopurine S-methyltransferase isoform X5

    UniProtKB/Swiss-Prot
    O55060, Q9JIL7, Q9QUG7
    Conserved Domains (1) summary
    pfam05724
    Location:43 → 264
    TPMT; Thiopurine S-methyltransferase (TPMT)

  11. XM_030247244.2 → XP_030103104.1  thiopurine S-methyltransferase isoform X7

    Conserved Domains (1) summary
    pfam05724
    Location:20 → 190
    TPMT; Thiopurine S-methyltransferase (TPMT)

  12. XM_006516925.5 → XP_006516988.1  thiopurine S-methyltransferase isoform X5

    UniProtKB/Swiss-Prot
    O55060, Q9JIL7, Q9QUG7
    Conserved Domains (1) summary
    pfam05724
    Location:43 → 264
    TPMT; Thiopurine S-methyltransferase (TPMT)

RNA

  1. XR_004938026.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O55060.1 GenPept UniProtKB/Swiss-Prot:O55060

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