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 5
  • Placental Protein 20 2 3 4
  • Thiamine Pyrophosphokinase 1 2 4
  • Thiamine Diphosphokinase 2 3
  • Thiamine Kinase 2 3
  • HTPK1 3 4
  • PP20 3 4
  • EC 2.7.6.2 4
  • THMD5 3

External Ids for TPK1 Gene

Previous GeneCards Identifiers for TPK1 Gene

  • GC07M142395
  • GC07M143463
  • GC07M143540
  • GC07M143586
  • GC07M143779
  • GC07M144149
  • GC07M138228

Summaries for TPK1 Gene

Entrez Gene Summary for TPK1 Gene

  • The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]

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 Megaloblastic Anemia. Among its related pathways are Thiamine metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include kinase activity and thiamine binding.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPK1 Gene

Genomics for TPK1 Gene

Regulatory Elements for TPK1 Gene

Enhancers for TPK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G144841 1.4 FANTOM5 Ensembl ENCODE 16.7 -6.3 -6265 1.5 ESRRA ATF1 ETV1 BACH1 CEBPG ZBTB40 RELA GATA2 ETV6 TRIM24 TPK1 RN7SKP174 GC07M144850
GH07G144833 1.1 ENCODE 16.7 +0.9 881 3.2 HDGF HNRNPUL1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B TPK1 CTAGE8 LOC154761 OR2A1 GC07M144690
GH07G144817 1 FANTOM5 ENCODE 14 +16.8 16819 3.5 CTCF HDGF MTA2 NR2F1 JUNB REST CEBPG TBX21 EP300 RELA TPK1 NOBOX GC07M144690
GH07G144829 0.8 ENCODE 13.9 +6.2 6245 1.0 HDAC1 PKNOX1 KLF1 ATF1 TAL1 ZSCAN4 CEBPG ZKSCAN1 FOSL1 TCF12 TPK1 GC07M144690
GH07G144812 0.9 Ensembl ENCODE 10.5 +23.6 23589 1.5 ETV1 ELF1 ATF2 ZBTB40 GABPA CBX5 ETV6 SPI1 TPK1 GC07M144690
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TPK1 on UCSC Golden Path with GeneCards custom track

Promoters for TPK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000219489 811 2001 HDGF HNRNPUL1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Location for TPK1 Gene

Chromosome:
7
Start:
144,451,941 bp from pter
End:
144,836,411 bp from pter
Size:
384,471 bases
Orientation:
Minus strand

Genomic View for TPK1 Gene

Genes around TPK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TPK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TPK1 Gene

Domains & Families for TPK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H3S4

UniProtKB/Swiss-Prot:

TPK1_HUMAN :
  • Belongs to the thiamine pyrophosphokinase family.
Family:
  • Belongs to the thiamine pyrophosphokinase family.
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 IEA,TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase 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

Human Phenotype Ontology for TPK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for TPK1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPK1 gene
Compartment Confidence
cytosol 5

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 & Interactions 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.

Gene Ontology (GO) - Biological Process for TPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006772 thiamine metabolic process IEA --
GO:0009229 thiamine diphosphate biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0042723 thiamine-containing compound metabolic process TAS --
genes like me logo Genes that share ontologies with TPK1: view

No data available for SIGNOR curated interactions for TPK1 Gene

Drugs & Compounds for TPK1 Gene

(8) Drugs for TPK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thiamine Approved, Vet_approved Nutra Target, ligand 101,101
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
thiamin diphosphate Experimental Pharma 0
Pyrithiamine Pyrophosphate Experimental Pharma Target 0

(5) Additional Compounds for TPK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
thiamine triphosphate
  • Thiamin triphosphate
  • Thiamine triphosphate
  • ThTP
3475-65-8
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TPK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x7.6).

Protein differential expression in normal tissues from HIPED for TPK1 Gene

This gene is overexpressed in Amniocyte (11.5), Monocytes (7.7), Peripheral blood mononuclear cells (7.1), and Blymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TPK1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TPK1 Gene:

TPK1

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.

Evidence on tissue expression from TISSUES for TPK1 Gene

  • Nervous system(4.4)
  • Intestine(4.2)
  • Liver(4.2)
  • Heart(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPK1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
General:
  • spinal cord
genes like me logo Genes that share expression patterns with TPK1: view

Primer Products

No data available for Protein tissue co-expression partners 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 34 35
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia TPK1 34 35
  • 87.65 (n)
cow
(Bos Taurus)
Mammalia TPK1 34 35
  • 87.38 (n)
mouse
(Mus musculus)
Mammalia Tpk1 34 16 35
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Tpk1 34
  • 86.01 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TPK1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPK1 34 35
  • 72.43 (n)
lizard
(Anolis carolinensis)
Reptilia TPK1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tpk1 34
  • 66.67 (n)
Str.11847 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11536 34
zebrafish
(Danio rerio)
Actinopterygii tpk1 34 35
  • 62.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002968 34
  • 49.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14721 36 34 35
  • 48.86 (n)
worm
(Caenorhabditis elegans)
Secernentea tpk-1 34 35
  • 46.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THI80 35 37
  • 23 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os01g0356500 34
  • 52.44 (n)
Os.34588 34
Species where no ortholog for TPK1 was found in the sources mined by GeneCards:
  • 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
rs371271054 Pathogenic, Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458] 144,453,621(+) AGGTA(C/T)TGGAA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs387906935 Pathogenic, Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458] 144,682,946(-) GTGCC(A/C)ACCGC intron-variant, nc-transcript-variant, reference, synonymous-codon, missense, utr-variant-5-prime
rs387906936 Pathogenic, Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458] 144,682,975(-) AGCTC(C/T)TTTAA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs375169579 Pathogenic 144,591,419(+) TTGAC(A/T)CACTG intron-variant
rs747753388 Pathogenic 144,682,908(+) GCATA(C/T)CTTTC intron-variant, splice-donor-variant

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

Variant ID Type Subtype PubMed ID
dgv136n17 CNV loss 16327808
esv1057651 CNV deletion 17803354
esv1481912 CNV insertion 17803354
esv1743575 CNV insertion 17803354
esv2000498 CNV deletion 18987734
esv2397451 CNV deletion 18987734
esv2477449 CNV insertion 19546169
esv2490376 CNV deletion 19546169
esv2495468 CNV deletion 19546169
esv2735285 CNV deletion 23290073
esv2735286 CNV deletion 23290073
esv2735287 CNV deletion 23290073
esv2735288 CNV deletion 23290073
esv274922 CNV gain+loss 21479260
esv2759570 CNV gain+loss 17122850
esv3000 CNV loss 18987735
esv3310421 CNV novel sequence insertion 20981092
esv3425969 CNV insertion 20981092
esv3444946 CNV insertion 20981092
esv3542561 CNV deletion 23714750
esv3542563 CNV deletion 23714750
esv3615322 CNV gain 21293372
esv3615323 CNV loss 21293372
esv3615324 CNV gain 21293372
nsv1026834 CNV loss 25217958
nsv1027547 CNV loss 25217958
nsv1075067 CNV deletion 25765185
nsv1135989 CNV deletion 24896259
nsv1137301 CNV deletion 24896259
nsv1140855 CNV deletion 24896259
nsv1149001 CNV deletion 26484159
nsv428188 CNV gain+loss 18775914
nsv482916 CNV loss 15286789
nsv525072 CNV loss 19592680
nsv528077 CNV loss 19592680
nsv8228 CNV loss 18304495
nsv831177 CNV loss 17160897
nsv831178 CNV gain 17160897
nsv956013 CNV deletion 24416366
nsv966905 CNV duplication 23825009

Variation tolerance for TPK1 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPK1 Gene

Human Gene Mutation Database (HGMD)
TPK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TPK1

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

Disorders for TPK1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TPK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thiamine metabolism dysfunction syndrome 5
  • encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency
megaloblastic anemia
  • megaloblastic anemia 1
amyotrophic lateral sclerosis 4, juvenile
  • amyotrophic lateral sclerosis type 4
generalized dystonia
  • dystonia 12
beriberi
  • thiamine deficiency
- elite association - COSMIC cancer census association via MalaCards
Search TPK1 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TPK1

Genetic Association Database (GAD)
TPK1
Human Genome Epidemiology (HuGE) Navigator
TPK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPK1
genes like me logo Genes that share disorders with TPK1: view

No data available for Genatlas for TPK1 Gene

Publications for TPK1 Gene

  1. 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 22 46 64
  2. 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 22 64
  3. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. (PMID: 11342111) Nosaka K. … Abe T. (Biochim. Biophys. Acta 2001) 2 3 4 64
  4. Molecular cloning of human thiamin pyrophosphokinase. (PMID: 11342117) Zhao R. … Goldman I.D. (Biochim. Biophys. Acta 2001) 3 4 22 64
  5. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. (PMID: 22152682) Mayr J.A. … Sperl W. (Am. J. Hum. Genet. 2011) 3 4 64

Products for TPK1 Gene

  • Addgene plasmids for TPK1

Sources for TPK1 Gene

Content
Loading form....