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Tpmt thiopurine methyltransferase [ Mus musculus (house mouse) ]

Gene ID: 22017, updated on 12-May-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 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
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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

Markers

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

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_016785.2NP_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