• Gene id: 79178

Gene Summary

• Gene Symbol: THTPA   Gene   UCSC   Ensembl
• Aliases: THTP, THTPASE
• Gene name: thiamine triphosphatase
• Alternate names: thiamine-triphosphatase,
• Gene location: 14q11.2 (23511759: 23560270)     Exons: 7     NC_000014.9
• Gene summary(Entrez): This gene encodes an enzyme which catalyzes the biosynthesis of thiamine disphophate (vitamin B1) by hydrolysis of thiamine triphosphate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
• OMIM: 609828

Protein Summary

• Protein general information: Q9BU02  
  • Name: Thiamine triphosphatase (ThTPase) (EC 3.6.1.28)
  • Length: 230  
  • Mass: 25566
  • Tissue specificity: Widely expressed but at a low level. {ECO
• Sequence:

  MAQGLIEVERKFLPGPGTEERLQELGGTLEYRVTFRDTYYDTPELSLMQADHWLRRREDSGWELKCPGAAGVLGP
  HTEYKELTAEPTIVAQLCKVLRADGLGAGDVAAVLGPLGLQEVASFVTKRSAWKLVLLGADEEEPQLRVDLDTAD
  FGYAVGEVEALVHEEAEVPTALEKIHRLSSMLGVPAQETAPAKLIVYLQRFRPQDYQRLLEVNSSRERPQETEDP
  DHCLG

• Structural information:
  • Protein Domains: (5..20-)
    (/note="CYTH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01044"-)
  • Interpro: IPR033469  IPR023577  IPR039582  IPR012177  
  • Prosite: PS51707
  • CDD: cd07758
  • PDB: 3BHD 3TVL
  • PDBsum: 3BHD 3TVL
  • STRING: ENSP00000288014
• Other Databases: GeneCards:  THTPA  Malacards:  THTPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IBA	molecular function
GO:0016311	dephosphorylation	IBA	biological process
GO:0042357	thiamine diphosphate metabolic process	IBA	biological process
GO:0050333	thiamin-triphosphatase activity	IBA	molecular function
GO:0042357	thiamine diphosphate metabolic process	ISS	biological process
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0006772	thiamine metabolic process	IEA	biological process
GO:0050333	thiamin-triphosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0050333	thiamin-triphosphatase activity	IEA	molecular function
GO:0042723	thiamine-containing compound metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0042357	thiamine diphosphate metabolic process	IEA	biological process
GO:0050333	thiamin-triphosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016311	dephosphorylation	IDA	biological process
GO:0050333	thiamin-triphosphatase activity	IDA	molecular function
GO:0016787	hydrolase activity	TAS	molecular function
GO:0006772	thiamine metabolic process	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00730	Thiamine metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq