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    Tpmt thiopurine methyltransferase [ Mus musculus (house mouse) ]

    Gene ID: 22017, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in kidney adult (RPKM 7.3), genital fat pad adult (RPKM 5.0) and 23 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    Variation

    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

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in methylation  
    involved_in xenobiotic metabolic process  
    Component Evidence Code Pubs
    located_in cytoplasm  

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_016785.2NP_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:19240
      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_011244399.2XP_011242701.1  thiopurine S-methyltransferase isoform X2

      See identical proteins and their annotated locations for XP_011242701.1

      Conserved Domains (1) summary
      pfam05724
      Location:19203
      TPMT; Thiopurine S-methyltransferase (TPMT)
    2. XM_030247241.2XP_030103101.1  thiopurine S-methyltransferase isoform X3

      Conserved Domains (1) summary
      cl17173
      Location:33162
      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_011244397.3XP_011242699.1  thiopurine S-methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011242699.1

      Conserved Domains (1) summary
      pfam05724
      Location:43227
      TPMT; Thiopurine S-methyltransferase (TPMT)
    4. XM_036158032.1XP_036013925.1  thiopurine S-methyltransferase isoform X3

      Conserved Domains (1) summary
      cl17173
      Location:33162
      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_011244398.3XP_011242700.1  thiopurine S-methyltransferase isoform X2

      See identical proteins and their annotated locations for XP_011242700.1

      Conserved Domains (1) summary
      pfam05724
      Location:19203
      TPMT; Thiopurine S-methyltransferase (TPMT)
    6. XM_036158033.1XP_036013926.1  thiopurine S-methyltransferase isoform X4

      Conserved Domains (1) summary
      cl17173
      Location:20153
      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_036158030.1XP_036013923.1  thiopurine S-methyltransferase isoform X3

      Conserved Domains (1) summary
      cl17173
      Location:33162
      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_011244396.3XP_011242698.1  thiopurine S-methyltransferase isoform X1

      See identical proteins and their annotated locations for XP_011242698.1

      Conserved Domains (1) summary
      pfam05724
      Location:43227
      TPMT; Thiopurine S-methyltransferase (TPMT)
    9. XM_006516926.3XP_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:19240
      TPMT; Thiopurine S-methyltransferase (TPMT)
    10. XM_030247243.2XP_030103103.1  thiopurine S-methyltransferase isoform X5

      UniProtKB/Swiss-Prot
      O55060, Q9JIL7, Q9QUG7
      Conserved Domains (1) summary
      pfam05724
      Location:43264
      TPMT; Thiopurine S-methyltransferase (TPMT)
    11. XM_030247244.2XP_030103104.1  thiopurine S-methyltransferase isoform X7

      Conserved Domains (1) summary
      pfam05724
      Location:20190
      TPMT; Thiopurine S-methyltransferase (TPMT)
    12. XM_006516925.5XP_006516988.1  thiopurine S-methyltransferase isoform X5

      UniProtKB/Swiss-Prot
      O55060, Q9JIL7, Q9QUG7
      Conserved Domains (1) summary
      pfam05724
      Location:43264
      TPMT; Thiopurine S-methyltransferase (TPMT)

    RNA

    1. XR_004938026.1 RNA Sequence

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