AlphaFold predicted structure
TPK1 · Q9H3S4
Mean pLDDT
97.9/ 100
Very high
243 residues
Confidence breakdown
- Very high(≥ 90)98%
- Confident(70–90)2%
- Low(50–70)0%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TPK1
Chr 7q35thiamin pyrophosphokinase 1
- Aliases:
- HTPK1, PP20
- MANE:
- ENST00000360057.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalAdult onset dystonia, chorea or related movement disorder
Adult onset neurodegenerative disorder
Unknown
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Disease associations (Open Targets)
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
0.80Leigh syndrome
0.39placenta praevia
0.35ovarian neoplasm
0.29pyogenic granuloma
0.29obesity disorder
0.25stroke disorder
0.24alcohol drinking
0.24self-injurious ideation
0.24chondrocalcinosis
0.24
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Thiamine pyrophosphokinase 1
Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate (TPP) utilizing UTP and therefore links the biosynthesis of TPP to pyrimidines metabolism (PubMed:38547260). By producing thiamine pyrophosphate, a cofactor of the mitochondrial pyruvate dehydrogenase indirectly regulates pyruvate oxidation and lipogenesis (PubMed:38547260). Although it can also catalyze thiamine phosphorylation using ATP and CTP in vitro, it does so with significantly lower efficiency and without physiological relevance evidence (PubMed:11342111, PubMed:38547260)
Diseases associated with TPK1
Curated MONDO disease pages that list TPK1 among their top associated genes.