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Tpk1 thiamine pyrophosphokinase [ Mus musculus (house mouse) ]

Gene ID: 29807, updated on 5-Mar-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. Acts upstream of or within thiamine metabolic process. Is expressed in several structures, including early conceptus; gonad; heart; liver; and metanephros. Human ortholog(s) of this gene implicated in inherited metabolic disorder. Orthologous to human TPK1 (thiamin pyrophosphokinase 1). [provided by Alliance of Genome Resources, Apr 2022]
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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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. Pyrithiamine as a substrate for thiamine pyrophosphokinase. Liu JY, et al. J Biol Chem, 2006 Mar 10. PMID 16365036
  2. Crystal structure of thiamin pyrophosphokinase. Timm DE, et al. J Mol Biol, 2001 Jun 29. PMID 11419946
  3. 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
  4. Molecular cloning of human thiamin pyrophosphokinase. Zhao R, et al. Biochim Biophys Acta, 2001 Jan 26. PMID 11342117
  5. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. Nosaka K, et al. Biochim Biophys Acta, 2001 Jan 26. PMID 11342111

See all (22) 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 identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding 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 ISO
Inferred from Sequence Orthology
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within phosphorylation 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 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
thiamin pyrophosphokinase 1
Names
mTPK1
thiamine pyrophosphokinase 1
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  thiamin 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  thiamin 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

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