APRT adenine phosphoribosyltransferase [Homo sapiens (human)]
| Gene Symbol | APRT |
| Entrez Gene ID | 353 |
| Full Name | adenine phosphoribosyltransferase |
| Synonyms | AMP, DKFZp686D13177, MGC125856, MGC125857, MGC129961 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
16 16q24 |
| Summary | Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. |
| Disorder | MIM: 102600 Urolithiasis, 2,8-dihydroxyadenine (3) |
| mRNA | NM_001030018, 71773200 |
| Protein | NP_001025189, 71773201 |
| Product | adenine phosphoribosyltransferase isoform b |
| RefSeq Status | REVIEWED |
| mRNA | NM_000485, 71773149 |
| Protein | NP_000476, 4502171 |
| Product | adenine phosphoribosyltransferase isoform a |
| RefSeq Status | REVIEWED |
| hsa00230 | Purine metabolism |
| hsa01100 | Metabolic pathways |
Reactome
| REACT_1923 | Purine salvage |
| REACT_1698 | Metabolism of nucleotides |
| REACT_522 | Purine metabolism |
| Homo sapiens (human) | APRT | NP_000476.1 |
| Pan troglodytes (chimpanzee) | APRT | XP_001138089.1 |
| Canis lupus familiaris (dog) | APRT | XP_536752.2 |
| Bos taurus (cattle) | APRT | NP_001020505.1 |
| Mus musculus (house mouse) | Aprt | NP_033828.2 |
| Rattus norvegicus (Norway rat) | Aprt | NP_001013079.1 |
| Danio rerio (zebrafish) | aprt | NP_956962.1 |
| Drosophila melanogaster (fruit fly) | Aprt | NP_476637.1 |
| Caenorhabditis elegans | T19B4.3 | NP_491663.1 |
| Arabidopsis thaliana (thale cress) | APT1 | NP_564284.1 |
| ID | Name | Evidence |
| GO:0006144 | purine base metabolic process | TAS |
| GO:0006166 | purine ribonucleoside salvage | IEA |
| GO:0006168 | adenine salvage | IEA |
| GO:0007625 | grooming behavior | IEA |
| GO:0009116 | nucleoside metabolic process | IEA |
| GO:0043101 | purine-containing compound salvage | TAS |
| GO:0046083 | adenine metabolic process | IEA |
| GO:0055086 | nucleobase, nucleoside and nucleotide metabolic process | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IDA |
| GO:0005730 | nucleolus | IDA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005737 | cytoplasm | TAS |
| GO:0005829 | cytosol | EXP |
Function
| ID | Name | Evidence |
| GO:0002055 | adenine binding | IEA |
| GO:0003999 | adenine phosphoribosyltransferase activity | EXP |
| GO:0005515 | protein binding | IPI |
| GO:0016208 | AMP binding | IDA |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA |
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