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Tpk1 thiamine pyrophosphokinase [ Mus musculus (house mouse) ]

Gene ID: 29807, updated on 5-Mar-2024

Summary

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
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Genomic context

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

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

Variation

Alleles

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

Pathways from PubChem

General gene information

Markers

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
 
Component Evidence Code Pubs
is_active_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001311111.1NP_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:20190
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21192
    PLN02714; thiamin pyrophosphokinase
  2. NM_013861.4NP_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:20239
    TPK; Thiamine pyrophosphokinase
    PLN02714
    Location:21241
    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_006506219.4XP_006506282.1  thiamin pyrophosphokinase 1 isoform X2

    Conserved Domains (1) summary
    PLN02714
    Location:4217
    PLN02714; thiamin pyrophosphokinase
  2. XM_006506218.4XP_006506281.1  thiamin pyrophosphokinase 1 isoform X1

    Conserved Domains (1) summary
    pfam04263
    Location:32155
    TPK_catalytic; Thiamin pyrophosphokinase, catalytic domain