adenine phosphoribosyltransferase
Symbol
APRT
(may also be known as: None)
Organism
Human
Description
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, Jul 2008]
Orthologs
| Symbol | Species | |
|---|---|---|
| T19B4.3 | Caenorhabditis elegans | |
| Aprt | Drosophila melanogaster | |
| aprt | Danio rerio | |
| Aprt | Mus musculus | |
| Aprt | Rattus norvegicus | |
| APT2 | Saccharomyces cerevisiae | |
| apt1 | Schizosaccharomyces pombe |
Links to external resources
Changes associated with this gene
| Identifier | Name | Type | Tissues | Organism | Gene | Data | Actions |
|---|---|---|---|---|---|---|---|
| DAA2993 | Gene expression of APRT decreases with age | Molecular | skin | Human | APRT | — | |
| DAA2782 | Gene expression of APRT decreases with age | Molecular | adipose tissue | Human | APRT | — |
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006144 | purine base metabolic process | biological_process | |
| GO:0006166 | purine ribonucleoside salvage | biological_process | |
| GO:0006168 | adenine salvage | biological_process | |
| GO:0007595 | lactation | biological_process | |
| GO:0007625 | grooming behavior | biological_process | |
| GO:0009116 | nucleoside metabolic process | biological_process | |
| GO:0043101 | purine-containing compound salvage | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0055086 | nucleobase-containing small molecule metabolic process | biological_process | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0005730 | nucleolus | cellular_component | |
| GO:0005737 | cytoplasm | cellular_component | |
| GO:0005829 | cytosol | cellular_component | |
| GO:0002055 | adenine binding | molecular_function | |
| GO:0003999 | adenine phosphoribosyltransferase activity | molecular_function | |
| GO:0016208 | AMP binding | molecular_function | |
| GO:0016757 | transferase activity, transferring glycosyl groups | molecular_function | |