• Gene id: 27010

Gene Summary

• Gene Symbol: TPK1   Gene   UCSC   Ensembl
• Aliases: HTPK1, PP20, THMD5
• Gene name: thiamin pyrophosphokinase 1
• Alternate names: thiamin pyrophosphokinase 1, placental protein 20, thiamine diphosphokinase, thiamine kinase,
• Gene location: 7q35 (43596045: 43230835)     Exons: 41     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 606370

Protein Summary

• Protein general information: Q9H3S4  
  • Name: Thiamin pyrophosphokinase 1 (hTPK1) (EC 2.7.6.2) (Placental protein 20) (PP20) (Thiamine pyrophosphokinase 1)
  • Length: 243  
  • Mass: 27265
  • Tissue specificity: Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues. {ECO
• Sequence:

  MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSI
  RPEVREYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITP
  FPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSG
  VVTVETDHPLLWTMAIKS

• Structural information:
  • Interpro: IPR006282  IPR016966  IPR007373  IPR036371  IPR007371   IPR036759  
  • CDD: cd07995
  • PDB: 1OLY 3S4Y
  • PDBsum: 1OLY 3S4Y
  • STRING: ENSP00000353165
• Other Databases: GeneCards:  TPK1  Malacards:  TPK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009229	thiamine diphosphate biosynthetic process	IBA	biological process
GO:0004788	thiamine diphosphokinase activity	IBA	molecular function
GO:0004788	thiamine diphosphokinase activity	IEA	molecular function
GO:0006772	thiamine metabolic process	IEA	biological process
GO:0009229	thiamine diphosphate biosynthetic process	IEA	biological process
GO:0030975	thiamine binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004788	thiamine diphosphokinase activity	IEA	molecular function
GO:0042723	thiamine-containing compound metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004788	thiamine diphosphokinase activity	IEA	molecular function
GO:0006772	thiamine metabolic process	IEA	biological process
GO:0009229	thiamine diphosphate biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00730	Thiamine metabolism

Diseases

Associated diseases	References
Thiamine pyrophosphokinase deficiency	KEGG:H01567
Thiamine pyrophosphokinase deficiency	KEGG:H01567
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)