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MGP004898

UniProt Annotations

Entry Information
Gene Namethiamin pyrophosphokinase 1
Protein EntryTPK1_HUMAN
UniProt IDQ9H3S4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H3S4-1; Sequence=Displayed; Name=2; IsoId=Q9H3S4-2; Sequence=VSP_056302, VSP_056303; Note=No experimental confirmation available.;
Catalytic ActivityATP + thiamine = AMP + thiamine diphosphate.
DiseaseThiamine 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.
FunctionCatalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. {ECO:0000269|PubMed:11342111}.
PathwayCofactor biosynthesis; thiamine diphosphate biosynthesis; thiamine diphosphate from thiamine: step 1/1.
Sequence CautionSequence=BAB15465.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the thiamine pyrophosphokinase family. {ECO:0000305}.
SubunitHomodimer.
Tissue SpecificityDetected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues. {ECO:0000269|PubMed:11342111, ECO:0000269|PubMed:11342117}.
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