Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TPK1 Gene

Aliases for TPK1 Gene

  • Thiamin Pyrophosphokinase 1 2 3
  • Placental Protein 20 2 3 4
  • Thiamine Pyrophosphokinase 1 2 4
  • Thiamine Diphosphokinase 2 3
  • Thiamine Kinase 2 3
  • HTPK1 3 4
  • THMD5 3 6
  • PP20 3 4
  • EC 2.7.6.2 4

External Ids for TPK1 Gene

Summaries for TPK1 Gene

Entrez Gene Summary for TPK1 Gene

  • This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for TPK1 Gene

TPK1 (Thiamin Pyrophosphokinase 1) is a Protein Coding gene. Diseases associated with TPK1 include thiamine metabolism dysfunction syndrome 5 and childhood encephalopathy due to thiamine pyrophosphokinase deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include kinase activity and thiamine diphosphokinase activity.

UniProtKB/Swiss-Prot for TPK1 Gene

  • Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.

Gene Wiki entry for TPK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPK1 Gene

Genomics for TPK1 Gene

Genomic Location for TPK1 Gene

Start:
144,451,941 bp from pter
End:
144,836,395 bp from pter
Size:
384,455 bases
Orientation:
Minus strand

Genomic View for TPK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TPK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPK1 Gene

Regulatory Elements for TPK1 Gene

Proteins for TPK1 Gene

  • Protein details for TPK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3S4-TPK1_HUMAN
    Recommended name:
    Thiamin pyrophosphokinase 1
    Protein Accession:
    Q9H3S4
    Secondary Accessions:
    • A8K0T7
    • D3DWG0
    • I6L9B8
    • Q6NUR5
    • Q9H602

    Protein attributes for TPK1 Gene

    Size:
    243 amino acids
    Molecular mass:
    27265 Da
    Quaternary structure:
    • Homodimer
    SequenceCaution:
    • Sequence=BAB15465.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TPK1 Gene

    Alternative splice isoforms for TPK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPK1 Gene

Proteomics data for TPK1 Gene at MOPED

Post-translational modifications for TPK1 Gene

No Post-translational modifications

Other Protein References for TPK1 Gene

No data available for DME Specific Peptides for TPK1 Gene

Domains for TPK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H3S4

UniProtKB/Swiss-Prot:

TPK1_HUMAN
Family:
  • Belongs to the thiamine pyrophosphokinase family.:
    • Q9H3S4
genes like me logo Genes that share domains with TPK1: view

No data available for Gene Families for TPK1 Gene

Function for TPK1 Gene

Molecular function for TPK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + thiamine = AMP + thiamine diphosphate
UniProtKB/Swiss-Prot Function: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.

Enzyme Numbers (IUBMB) for TPK1 Gene

Gene Ontology (GO) - Molecular Function for TPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004788 thiamine diphosphokinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0030975 thiamine binding IEA --
genes like me logo Genes that share ontologies with TPK1: view
genes like me logo Genes that share phenotypes with TPK1: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TPK1 Gene

Localization for TPK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPK1 Gene COMPARTMENTS Subcellular localization image for TPK1 gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for TPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TPK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TPK1 Gene

Pathways for TPK1 Gene

SuperPathways for TPK1 Gene

genes like me logo Genes that share pathways with TPK1: view

Pathways by source for TPK1 Gene

UniProtKB/Swiss-Prot Q9H3S4-TPK1_HUMAN

  • Pathway: Cofactor biosynthesis; thiamine diphosphate biosynthesis; thiamine diphosphate from thiamine: step 1/1

Interacting Proteins for TPK1 Gene

Gene Ontology (GO) - Biological Process for TPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006772 thiamine metabolic process IBA --
GO:0009229 thiamine diphosphate biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with TPK1: view

Compounds for TPK1 Gene

(3) HMDB Compounds for TPK1 Gene

Compound Synonyms Cas Number PubMed IDs
Thiamine
  • Aneurin
59-43-8
Thiamine pyrophosphate
  • TPP
154-87-0
Thiamine triphosphate
  • Thiamin triphosphate
3475-65-8

(2) Drugbank Compounds for TPK1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pyrithiamine Pyrophosphate
target
Thiamine
  • Thiadoxine
59-43-8 target ligand

(9) Novoseek inferred chemical compound relationships for TPK1 Gene

Compound -log(P) Hits PubMed IDs
thiamine 88.9 31
thiamine monophosphate 88.2 1
thiamine pyrophosphate 85.7 4
thiamin diphosphate 85.6 2
alpha-ketoglutarate 49.8 1
genes like me logo Genes that share compounds with TPK1: view

Transcripts for TPK1 Gene

Unigene Clusters for TPK1 Gene

Thiamin pyrophosphokinase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: -
SP2: - - - - - - -
SP3: - - - -

Relevant External Links for TPK1 Gene

GeneLoc Exon Structure for
TPK1
ECgene alternative splicing isoforms for
TPK1

Expression for TPK1 Gene

mRNA expression in normal human tissues for TPK1 Gene

mRNA differential expression in normal tissues according to GTEx for TPK1 Gene

This gene is overexpressed in Whole Blood (7.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TPK1 Gene

SOURCE GeneReport for Unigene cluster for TPK1 Gene Hs.660232

mRNA Expression by UniProt/SwissProt for TPK1 Gene

Q9H3S4-TPK1_HUMAN
Tissue specificity: Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues.
genes like me logo Genes that share expressions with TPK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TPK1 Gene

Orthologs for TPK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TPK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPK1 35
  • 99.18 (n)
  • 99.59 (a)
TPK1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TPK1 35
  • 87.38 (n)
  • 87.24 (a)
TPK1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPK1 35
  • 87.65 (n)
  • 88.89 (a)
TPK1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tpk1 35
  • 86.42 (n)
  • 89.3 (a)
Tpk1 16
Tpk1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TPK1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpk1 35
  • 86.01 (n)
  • 86.83 (a)
chicken
(Gallus gallus)
Aves TPK1 35
  • 72.43 (n)
  • 74.35 (a)
TPK1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPK1 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11536 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11847 35
tpk1 35
  • 66.67 (n)
  • 68.33 (a)
zebrafish
(Danio rerio)
Actinopterygii tpk1 35
  • 62.17 (n)
  • 63.71 (a)
tpk1 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002968 35
  • 49.07 (n)
  • 45.37 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14721 35
  • 48.86 (n)
  • 40.6 (a)
CG14721 36
  • 27 (a)
OneToOne
CG14721 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea tpk-1 35
  • 46.2 (n)
  • 34.88 (a)
tpk-1 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THI80 36
  • 23 (a)
OneToOne
THI80 38
rice
(Oryza sativa)
Liliopsida Os.34588 35
Os01g0356500 35
  • 52.44 (n)
  • 40.59 (a)
Species with no ortholog for TPK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TPK1 Gene

ENSEMBL:
Gene Tree for TPK1 (if available)
TreeFam:
Gene Tree for TPK1 (if available)

Paralogs for TPK1 Gene

No data available for Paralogs for TPK1 Gene

Variants for TPK1 Gene

Sequence variations from dbSNP and Humsavar for TPK1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs469 -- 144,732,049(+) gatga(A/C)aatca intron-variant
rs38045 -- 144,529,573(+) GGGTT(A/G)TAATA intron-variant
rs38046 -- 144,567,501(+) tgggg(A/G)aaaaa intron-variant
rs38047 -- 144,579,061(+) TTAAT(C/T)TTCCA intron-variant
rs38048 -- 144,587,313(+) CCATC(C/G/T)ATACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TPK1 Gene

Variant ID Type Subtype PubMed ID
nsv428188 CNV Gain+Loss 18775914
dgv2148e1 CNV Complex 17122850
dgv2149e1 CNV Complex 17122850
nsv831177 CNV Loss 17160897
nsv889377 CNV Loss 21882294
esv2477449 CNV Insertion 19546169
esv2735285 CNV Deletion 23290073
esv1743575 CNV Insertion 17803354
nsv831178 CNV Gain 17160897
nsv8228 CNV Loss 18304495
nsv889378 CNV Loss 21882294
nsv889379 CNV Loss 21882294
nsv525072 CNV Loss 19592680
nsv889380 CNV Loss 21882294
esv2490376 CNV Deletion 19546169
esv2495468 CNV Deletion 19546169
esv2735286 CNV Deletion 23290073
esv2000498 CNV Deletion 18987734
esv3000 CNV Deletion 18987735
esv1057651 CNV Deletion 17803354
esv2735287 CNV Deletion 23290073
nsv528077 CNV Loss 19592680
esv2397451 CNV Deletion 18987734
esv2735288 CNV Deletion 23290073
esv1481912 CNV Insertion 17803354
dgv136n17 CNV Loss 16327808
esv274922 CNV Gain+Loss 21479260

Relevant External Links for TPK1 Gene

HapMap Linkage Disequilibrium report
TPK1
Human Gene Mutation Database (HGMD)
TPK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPK1 Gene

Disorders for TPK1 Gene

(1) OMIM Diseases for TPK1 Gene (606370)

UniProtKB/Swiss-Prot

TPK1_HUMAN
  • Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]: An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. {ECO:0000269 PubMed:22152682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TPK1 Gene

(3) Novoseek inferred disease relationships for TPK1 Gene

Disease -log(P) Hits PubMed IDs
anemia megaloblastic 76.2 1
deafness sensorineural 70.6 1
diabetes mellitus 30.6 1

Relevant External Links for TPK1

Genetic Association Database (GAD)
TPK1
Human Genome Epidemiology (HuGE) Navigator
TPK1
genes like me logo Genes that share disorders with TPK1: view

Publications for TPK1 Gene

  1. Cloning, sequencing, structural and molecular biological characterization of placental protein 20 (PP20)/human thiamin pyrophosphokinase (hTPK). (PMID: 15664409) Bellyei S. … Than N.G. (Placenta 2005) 3 4 23 25
  2. Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight. (PMID: 17295612) Fradin D. … Bougneres P. (Ann. Hum. Genet. 2007) 3 23 48
  3. Molecular cloning of human thiamin pyrophosphokinase. (PMID: 11342117) Zhao R. … Goldman I.D. (Biochim. Biophys. Acta 2001) 3 4 23
  4. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. (PMID: 11342111) Nosaka K. … Abe T. (Biochim. Biophys. Acta 2001) 2 3 4
  5. Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies. (PMID: 16087053) Toyoshima M. … Yamada K. (Pediatr. Neurol. 2005) 3 23

Products for TPK1 Gene

  • Addgene plasmids for TPK1

Sources for TPK1 Gene

Back to Top

Content