ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) [Homo sapiens (human)]
| Gene Symbol | ITPA |
| Entrez Gene ID | 3704 |
| Full Name | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) |
| Synonyms | C20orf37, HLC14-06-P, ITPase, dJ794I6.3 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
20 20p |
| Summary | The protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding. [provided by RefSeq]. |
| Disorder | MIM: 147520 [Inosine triphosphatase deficiency] (3) |
| mRNA | NM_033453, 31657145 |
| Protein | NP_258412, 15626999 |
| Product | inosine triphosphate pyrophosphatase isoform a |
| RefSeq Status | REVIEWED |
| mRNA | NM_181493, 31657143 |
| Protein | NP_852470, 31657144 |
| Product | inosine triphosphate pyrophosphatase isoform b |
| RefSeq Status | REVIEWED |
| hsa00230 | Purine metabolism |
| hsa00240 | Pyrimidine metabolism |
| hsa01100 | Metabolic pathways |
| hsa00983 | Drug metabolism - other enzymes |
| Homo sapiens (human) | ITPA | NP_258412.1 |
| Pan troglodytes (chimpanzee) | ITPA | XP_001161047.1 |
| Canis lupus familiaris (dog) | ITPA | XP_851574.1 |
| Bos taurus (cattle) | ITPA | NP_001069750.1 |
| Mus musculus (house mouse) | Itpa | NP_080198.2 |
| Rattus norvegicus (Norway rat) | Itpa | XP_230604.1 |
| Gallus gallus (chicken) | ITPA | XP_422234.1 |
| Danio rerio (zebrafish) | si:ch73-18j6.1 | NP_001093456.1 |
| Drosophila melanogaster (fruit fly) | CG8891 | NP_608890.1 |
| Caenorhabditis elegans | hap-1 | NP_498121.1 |
| Arabidopsis thaliana (thale cress) | AT4G13720 | NP_567410.1 |
| ID | Name | Evidence |
| GO:0009117 | nucleotide metabolic process | IEA |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IDA |
Function
| ID | Name | Evidence |
| GO:0016787 | hydrolase activity | IEA |
| GO:0046872 | metal ion binding | IEA |
| GO:0047429 | nucleoside-triphosphate diphosphatase activity | IEA |
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