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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

  • 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 Metabolism and Thiamine metabolism. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TPK1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TPK1 Gene at MOPED

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:0016301 kinase activity 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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 5

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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.

Interacting Proteins for TPK1 Gene

Gene Ontology (GO) - Biological Process for TPK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006772 thiamine metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0042723 thiamine-containing compound metabolic process TAS --
GO:0044281 small molecule 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Thiamine Approved Nutra Target, ligand 94,94
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
thiamin diphosphate Experimental Pharma 0
Pyrithiamine Pyrophosphate Experimental Pharma Target 0

(3) 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:

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 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, 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 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
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
chimpanzee
(Pan troglodytes)
Mammalia TPK1 35
  • 99.18 (n)
  • 99.59 (a)
TPK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tpk1 35
  • 86.01 (n)
  • 86.83 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TPK1 36
  • 74 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11847 35
tpk1 35
  • 66.67 (n)
  • 68.33 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11536 35
zebrafish
(Danio rerio)
Actinopterygii tpk1 35
  • 62.17 (n)
  • 63.71 (a)
tpk1 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14721 37
  • 35 (a)
CG14721 35
  • 48.86 (n)
  • 40.6 (a)
CG14721 36
  • 27 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002968 35
  • 49.07 (n)
  • 45.37 (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
VAR_067391 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)
VAR_067392 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)
VAR_067393 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)
rs765811 -- 144,671,272(+) GGGAC(A/G)TGTGT intron-variant
rs885679 -- 144,462,577(+) TCTTC(A/T)TCTCT 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

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

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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
thiamine metabolism dysfunction syndrome 5
  • thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
megaloblastic anemia
  • grasbeck-imerslund syndrome
amyotrophic lateral sclerosis type 4
  • amyotrophic lateral sclerosis 4, juvenile
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- 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. Isolation and characterization of a human thiamine pyrophosphokinase cDNA. (PMID: 11342111) Nosaka K. … Abe T. (Biochim. Biophys. Acta 2001) 2 3 4 67
  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 23 25
  3. 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
  4. Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies. (PMID: 16087053) Toyoshima M. … Yamada K. (Pediatr. Neurol. 2005) 3 23
  5. Molecular cloning and analysis of the 5'-flanking region of the human thiamin pyrophosphokinase gene. (PMID: 16262001) Onozuka M. … Nosaka K. (J. Nutr. Sci. Vitaminol. 2005) 3 23

Products for TPK1 Gene

Sources for TPK1 Gene

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