Homo sapiens Gene: THTPA
Summary
InnateDB Gene IDBG-547392.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol THTPA
Gene Name thiamine triphosphatase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000259431
Encoded Proteins
thiamine triphosphatase
thiamine triphosphatase
thiamine triphosphatase
thiamine triphosphatase
thiamine triphosphatase
thiamine triphosphatase
thiamine triphosphatase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:23555988-23560271
Strand Forward strand
Band q11.2
Transcripts
ENST00000288014 ENSP00000288014
ENST00000404535 ENSP00000384580
ENST00000557630 ENSP00000452281
ENST00000556015 ENSP00000451835
ENST00000554970 ENSP00000452465
ENST00000554789 ENSP00000450459
ENST00000556545 ENSP00000452164
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000287 magnesium ion binding
GO:0016787 hydrolase activity
GO:0050333 thiamin-triphosphatase activity
Biological Process
GO:0006091 generation of precursor metabolites and energy
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006772 thiamine metabolic process
GO:0016311 dephosphorylation
GO:0042357 thiamine diphosphate metabolic process
GO:0042723 thiamine-containing compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Vitamin B1 (thiamin) metabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Thiamine metabolism pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL G3V5Q5
UniProt Splice Variant
Entrez Gene 79178
UniGene
RefSeq NM_001256322 NM_001256323 NM_001126339 NM_001256062 NM_001256321 NM_024328
HUGO HGNC:18987
OMIM 611612
CCDS CCDS58306 CCDS32053 CCDS58307
HPRD 15505
IMGT
EMBL AL135999
GenPept
RNA Seq Atlas 79178