TPK1
entrez
27010
canonical
uniprot
Q9H3S4
canonical
ensembl
ENSG00000196511
resolver
ensp
ENSP00000353165
resolver
ensp
ENSP00000367338
resolver
ensp
ENSP00000367339
resolver
ensp
ENSP00000438813
resolver
ensp
ENSP00000560048
resolver
ensp
ENSP00000560050
resolver
ensp
ENSP00000560051
resolver
ensp
ENSP00000560054
resolver
ensp
ENSP00000599306
resolver
ensp
ENSP00000626495
resolver
ensp
ENSP00000660159
resolver
ensp
ENSP00000750760
resolver
enst
ENST00000378099
resolver
enst
ENST00000538212
resolver
enst
ENST00000889992
resolver
enst
ENST00000929247
resolver
enst
ENST00000956436
resolver
genesymbol
TPK1
resolver
hgnc
HGNC:17358
resolver
uniprot
A0A090N8Y0
resolver
uniprot
A8K0T7
resolver
uniprot
B3KRJ6
resolver
uniprot
D3DWG0
resolver
uniprot
F5GZG6
resolver
uniprot
F6S270
resolver
uniprot
I6L9B8
resolver
uniprot
Q6NUR5
resolver
uniprot
Q6ZQX6
resolver
uniprot
Q9H602
resolver
uniprot_entry
A0A090N8Y0_HUMAN
resolver
uniprot_entry
B3KRJ6_HUMAN
resolver
uniprot_entry
F5GZG6_HUMAN
resolver
uniprot_entry
F6S270_HUMAN
resolver
uniprot_entry
Q6ZQX6_HUMAN
resolver
uniprot_entry
TPK1_HUMAN
resolver
uniprot_sec
A8K0T7
resolver
uniprot_sec
D3DWG0
resolver
uniprot_sec
I6L9B8
resolver
uniprot_sec
Q6NUR5
resolver
uniprot_sec
Q9H602
resolver
amino_acid_sequence
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVREYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.6.-
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:11342111, ECO:0000269|PubMed:38547260}.
uniprot
proteins
mass_dalton
27265
uniprot
proteins
mutagenesis
MUTAGEN 100; /note="D->A: Loss of thiamine diphosphokinase activity."; /evidence="ECO:0000269|PubMed:38547260"; MUTAGEN 101; /note="F->A: Loss of UTP-specific thiamine diphosphokinase activity."; /evidence="ECO:0000269|PubMed:38547260
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; thiamine diphosphate biosynthesis; thiamine diphosphate from thiamine: step 1/1. {ECO:0000269|PubMed:38547260}.
uniprot
proteins
protein_family
Thiamine pyrophosphokinase family
uniprot
proteins
pubmed
11342111
uniprot
proteins
pubmed
11342117
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15664409
uniprot
proteins
pubmed
22152682
uniprot
proteins
pubmed
38547260
uniprot
proteins
sequence_length
243
uniprot
proteins