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    Tpmt thiopurine methyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 22017, updated on 21-Apr-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 act upstream of or within methylation. 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, Apr 2022]
    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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    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
    • 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. 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
    3. Differential effects of targeted disruption of thiopurine methyltransferase on mercaptopurine and thioguanine pharmacodynamics. Hartford C, et al. Cancer Res, 2007 May 15. PMID 17510427
    4. Analysis of variation in mouse TPMT genotype, expression and activity. Watters JW, et al. Pharmacogenetics, 2004 Apr. PMID 15083069
    5. Mouse thiopurine methyltransferase pharmacogenetics: monogenic inheritance. Otterness DM, et al. J Pharmacol Exp Ther, 1987 Mar. PMID 3559976

    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)
    • Gene trapped (1) 
    • Targeted (1)  1 citation
    • Endonuclease-mediated (2) 

    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 S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methyltransferase activity IEA
    Inferred from Electronic Annotation
    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 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within 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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