Homo sapiens Gene: THTPA | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 14:23555988-23560271 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q11.2 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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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
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KEGG |
Thiamine metabolism pathway
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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 | ||||||||||||||||||