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TPK1 (thiamin pyrophosphokinase 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27010
Gene nameGene Name - the full gene name approved by the HGNC.
Thiamin pyrophosphokinase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TPK1
SynonymsGene synonyms aliases
HTPK1, PP20, THMD5
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q35
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabo
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs113536847 G>A Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, 3 prime UTR variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs368458768 C>G,T Pathogenic, uncertain-significance Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs371271054 T>C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs375169579 T>A Pathogenic-likely-pathogenic, pathogenic Genic downstream transcript variant, intron variant
rs387906935 T>G Pathogenic Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT525493 hsa-miR-548az-5p PAR-CLIP 22012620
MIRT525492 hsa-miR-548t-5p PAR-CLIP 22012620
MIRT525491 hsa-miR-106a-5p PAR-CLIP 22012620
MIRT525490 hsa-miR-106b-5p PAR-CLIP 22012620
MIRT525489 hsa-miR-17-5p PAR-CLIP 22012620
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004788 Function Thiamine diphosphokinase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005829 Component Cytosol TAS
GO:0006772 Process Thiamine metabolic process IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H3S4
Protein name Thiamine pyrophosphokinase 1 (hTPK1) (EC 2.7.6.-) (Placental protein 20) (PP20) (Thiamin pyrophosphokinase 1)
Protein 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
PDB 3S4Y , 9HJC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04263 TPK_catalytic
32 → 154
Thiamin pyrophosphokinase, catalytic domain
 Domain
PF04265 TPK_B1_binding
169 → 236
Thiamin pyrophosphokinase, vitamin B1 binding domain
 Domain
Sequence
Sequence length 243
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Thiamine metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Vitamin B1 (thiamin) metabolism
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Encephalopathy Childhood encephalopathy due to thiamine pyrophosphokinase deficiency rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1555202947, rs1555203557, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs563025075, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842
Unknown
Disease name Disease term dbSNP ID References
Thiamine metabolism dysfunction syndrome THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) rs11334205, rs76100632, rs569329913, rs386655913, rs539344508, rs34020562, rs4972919 28431625, 22152682

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