Aprt Gene Summary [Mouse]
Enables adenine binding activity and adenine phosphoribosyltransferase activity. Involved in AMP salvage; GMP salvage; and IMP salvage. Acts upstream of or within adenine metabolic process; grooming behavior; and purine ribonucleoside salvage. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and sensory organ. Used to study adenine phosphoribosyltransferase deficiency. Human ortholog(s) of this gene implicated in adenine phosphoribosyltransferase deficiency. Orthologous to human APRT (adenine phosphoribosyltransferase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Aprt |
| Official Name | adenine phosphoribosyl transferase [Source:MGI Symbol;Acc:MGI:88061] |
| Ensembl ID | ENSMUSG00000006589 |
| Bio databases IDs | |
| Aliases | adenine phosphoribosyl transferase |
| Synonyms | adenine phosphoribosyl transferase, APRTD |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Aprt often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- AMP binding
- binding protein
- adenine phosphoribosyltransferase
- orotate phosphoribosyltransferase
- Phosphoribosyl transferase (PRT)-type I domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- fibrosis
- weight loss
- deficiency of adenine phosphoribosyltransferase
- Japanese type APRT deficiency
- pyelonephritis
- kidney stones
- crystalluria
- tubulo-interstitial fibrosis
- aminoaciduria
- hydronephrosis
regulates
- adenosine triphosphate
- blood urea nitrogen
- creatinine
- uric acid
- adenine
- 2,8-dihydroxyadenine
- nebularine
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- secretory granule lumen
- Extracellular Space
- cytosol
- nucleoplasm
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Aprt gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- AMP salvage
- grooming behavior
- GMP salvage
- IMP salvage
- adenine salvage
- purine ribonucleoside salvage
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
- secretory granule lumen
- extracellular region
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- AMP binding
- protein binding
- adenine phosphoribosyltransferase activity
- adenine binding