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    Tpk1 thiamine pyrophosphokinase [ Mus musculus (house mouse) ]

    Gene ID: 29807, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tpk1provided by MGI
    Official Full Name
    thiamine pyrophosphokinaseprovided by MGI
    Primary source
    MGI:MGI:1352500
    See related
    Ensembl:ENSMUSG00000029735 AllianceGenome:MGI:1352500
    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 thiamine diphosphokinase activity. Involved in thiamine diphosphate biosynthetic process. Acts upstream of or within thiamine metabolic process. Is active in cytosol. Is expressed in several structures, including gonad; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in inherited metabolic disorder. Orthologous to human TPK1 (thiamin pyrophosphokinase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney adult (RPKM 11.4), large intestine adult (RPKM 4.0) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tpk1 in Genome Data Viewer
    Location:
    6 B2.1; 6 21.19 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (43316510..43644726, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (43339576..43667792, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 5 Neighboring gene STARR-seq mESC enhancer starr_15732 Neighboring gene NOBOX oogenesis homeobox Neighboring gene STARR-seq mESC enhancer starr_15734 Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase pseudogene Neighboring gene predicted gene, 35113 Neighboring gene RIKEN cDNA 9430018G01 gene Neighboring gene STARR-seq mESC enhancer starr_15735 Neighboring gene predicted gene, 38800 Neighboring gene STARR-seq mESC enhancer starr_15736 Neighboring gene STARR-seq mESC enhancer starr_15737 Neighboring gene STARR-seq mESC enhancer starr_15738 Neighboring gene predicted gene, 46984 Neighboring gene STARR-seq mESC enhancer starr_15739 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2 pseudogene

    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. Mechanism of thiamine transport in neuroblastoma cells. Inhibition of a high affinity carrier by sodium channel activators and dependence of thiamine uptake on membrane potential and intracellular ATP. Bettendorff L, et al. J Biol Chem, 1994 May 20. PMID 8182042
    2. Pyrithiamine as a substrate for thiamine pyrophosphokinase. Liu JY, et al. J Biol Chem, 2006 Mar 10. PMID 16365036
    3. Crystal structure of thiamin pyrophosphokinase. Timm DE, et al. J Mol Biol, 2001 Jun 29. PMID 11419946
    4. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. Nosaka K, et al. Biochim Biophys Acta, 2001 Jan 26. PMID 11342111
    5. Molecular cloning of human thiamin pyrophosphokinase. Zhao R, et al. Biochim Biophys Acta, 2001 Jan 26. PMID 11342117

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    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 ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UTP thiamine diphosphokinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables thiamine binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables thiamine diphosphokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thiamine diphosphokinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables thiamine diphosphokinase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables thiamine diphosphokinase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of acetyl-CoA biosynthetic process from pyruvate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thiamine diphosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thiamine diphosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thiamine diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thiamine diphosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in thiamine diphosphate biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within thiamine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    thiamine pyrophosphokinase 1; thiamin pyrophosphokinase 1
    Names
    mTPK1
    NP_001298040.1
    NP_038889.1
    XP_006506281.1
    XP_006506282.1

    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_001311111.1 → NP_001298040.1  thiamine pyrophosphokinase 1 isoform 2

      See identical proteins and their annotated locations for NP_001298040.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AK035044, AK087844, AK136486, BE691023
      Consensus CDS
      CCDS80529.1
      UniProtKB/Swiss-Prot
      Q9R0M5
      Related
      ENSMUSP00000110291.3, ENSMUST00000114644.8
      Conserved Domains (2) summary
      cd07995
      Location:20 → 190
      TPK; Thiamine pyrophosphokinase
      PLN02714
      Location:21 → 192
      PLN02714; thiamin pyrophosphokinase

    2. NM_013861.4 → NP_038889.1  thiamine pyrophosphokinase 1 isoform 1

      See identical proteins and their annotated locations for NP_038889.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK035044, AK052225, AK087844, BE691023
      Consensus CDS
      CCDS39474.1
      UniProtKB/Swiss-Prot
      Q3UWB5, Q8CAB5, Q8CEE8, Q8R1Q6, Q9R0M5
      Related
      ENSMUSP00000065631.8, ENSMUST00000067888.14
      Conserved Domains (2) summary
      cd07995
      Location:20 → 239
      TPK; Thiamine pyrophosphokinase
      PLN02714
      Location:21 → 241
      PLN02714; thiamin pyrophosphokinase

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      43316510..43644726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506219.4 → XP_006506282.1  thiamin pyrophosphokinase 1 isoform X2

      Conserved Domains (1) summary
      PLN02714
      Location:4 → 217
      PLN02714; thiamin pyrophosphokinase

    2. XM_006506218.4 → XP_006506281.1  thiamin pyrophosphokinase 1 isoform X1

      Conserved Domains (1) summary
      pfam04263
      Location:32 → 155
      TPK_catalytic; Thiamin pyrophosphokinase, catalytic domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R0M5.1 GenPept UniProtKB/Swiss-Prot:Q9R0M5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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