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Literature summary for 2.7.6.2 extracted from

  • Banka, S.; de Goede, C.; Yue, W.W.; Morris, A.A.; von Bremen, B.; Chandler, K.E.; Feichtinger, R.G.; Hart, C.; Khan, N.; Lunzer, V.; Matakovi?, L.; Marquardt, T.; Makowski, C.; Prokisch, H.; Debus, O.; Nosaka, K.; Sonwalkar, H.; Zimmermann, F.A.; Sperl, W.; Mayr, J.A.
    Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations (2014), Mol. Genet. Metab., 113, 301-306.
    View publication on PubMed
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Cloned(Commentary)

Cloned (Comment) Organism
gene TPK1, TPK1 Sanger sequencing analysis, recombinant expression of His-tagged wild-type and mutant enzymes in Escherichia coli strain BL21(DE3)pLysS Homo sapiens

Protein Variants

Protein Variants Comment Organism
D222H naturally occurring homozygous TPK1 mutation in a patient with enzyme deficiency suffering neurological disorder Homo sapiens
S160L naturally occurring homozygous TPK1 mutation in a patient with enzyme deficiency suffering neurological disorder. Early thiamine supplementation prevents encephalopathic episodes and improved developmental progression of Patient 1, emphasizing the importance of early diagnosis and treatment of TPK deficiency. The p.Ser160Leu mutation is predicted to interferewith TPK dimerization, which may be another mechanism for the disease Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
 Homo sapiens 5829
-

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+ required Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + thiamine Homo sapiens
-
 AMP + thiamine diphosphate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9H3S4 gene TPK1
-

Purification (Commentary)

Purification (Comment) Organism
recombinant His-tagged wild-type and mutant enzymes from Escherichia coli strain BL21(DE3)pLysS by cobalt affinity chromatography Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + thiamine
-
 Homo sapiens AMP + thiamine diphosphate
-
 ?

Synonyms

Synonyms Comment Organism
thiamine pyrophosphokinase
-
 Homo sapiens
Tpk1
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 assay at Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.5
-
 assay at Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction TPK1 mutations cause thiamine pyrophosphokinase deficiency, a treatable neurological disorder. Diagnosis of TPK deficiency in a clinical setting, overview. TPK1 mutations result in episodic encephalopathy type thiamine metabolism dysfunction is the most recently described disorder of this group Homo sapiens
physiological function thiamine diphosphate is a cofactor for enzymes important in a range of fundamental processes such as cellular respiration (pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase) and in providing substrates for synthesis of nucleic acids, nucleotides, fatty acids and steroids (transketolase in the pentose phosphate pathway). It is needed for the catabolism of amino acids (branched-chain ?-keto acid dehydrogenase), phytanic acid and 2-hydroxy straight chain fatty acids (2-hydroxyphytanoyl-CoA lyase) Homo sapiens