APRT Gene: Adenine Phosphoribosyltransferase
Genetic and Functional Insights into APRT Deficiency and Related Disorders
Gene Information Card
| Symbol | APRT |
|---|---|
| Full Name | Adenine phosphoribosyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 353 ncbi.nlm.nih.gov/gene/353 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | P07741 |
| OMIM ID | 102600 |
| HGNC ID | 626 |
| Aliases | AMPD, APRTD |
Description
The APRT gene encodes adenine phosphoribosyltransferase, an enzyme involved in the purine salvage pathway that catalyzes the conversion of adenine to adenosine monophosphate (AMP) using phosphoribosyl pyrophosphate (PRPP). Deficiency of this enzyme leads to the accumulation of 2,8-dihydroxyadenine (2,8-DHA), causing urolithiasis and potential renal failure. The gene is located on chromosome 16q24.3 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adenine phosphoribosyltransferase deficiency | Loss-of-function mutations in APRT impair adenine salvage, leading to 2,8-dihydroxyadenine crystal formation in urine and kidney stones. | OMIM #102600; ClinVar; multiple case reports |
| 2,8-Dihydroxyadenine urolithiasis | Accumulation of 2,8-DHA due to APRT deficiency results in radiolucent kidney stones and chronic kidney disease. | OMIM; NCBI Gene; literature |
| Renal failure (secondary) | Chronic obstruction and inflammation from 2,8-DHA crystals can progress to end-stage renal disease. | ClinVar; case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Small intestine | 10.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Hepatocellular carcinoma cell line |
| HEK 293 | 14.7 | Embryonic kidney cells |
| K-562 | 9.2 | Chronic myelogenous leukemia |
| HeLa | 7.5 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.194A>T (p.Asp65Val) | Missense | Rare | Loss of enzyme activity |
| c.202C>T (p.Arg68Ter) | Nonsense | Rare | Premature truncation, loss of function |
| c.400+1G>A | Splice site | Rare | Splicing defect, loss of function |
| c.47_48del (p.Leu16Argfs*2) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most APRT mutations are loss-of-function, leading to enzyme deficiency and 2,8-DHA accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; APRT deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • adenine phosphoribosyltransferase activity (GO:0003999) | • adenine salvage (GO:0006168) |
| • nucleoside metabolic process (GO:0009116) | • cytoplasm (GO:0005737) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Adenine salvage pathway
Protein Summary
Adenine phosphoribosyltransferase (APRT) is a 180-amino acid enzyme that catalyzes the reversible conversion of adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP) to AMP and pyrophosphate. It is a homodimer localized in the cytoplasm and plays a key role in purine salvage. Deficiency causes APRT deficiency, an autosomal recessive disorder characterized by 2,8-dihydroxyadenine urolithiasis and potential renal failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APRT Knockout HEK293 Cell Line | EDJ-KQ4073 | Human | 353 | Details Get a Quote |
| NAPRT Knockout HEK293 Cell Line | EDJ-KQ11164 | Human | 93100 | Details Get a Quote |
| APRT Knockout A-549 Cell Line | EDJ-KQ25105 | Human | 353 | Details Get a Quote |
| NAPRT Knockout A-549 Cell Line | EDJ-KQ39179 | Human | 93100 | Details Get a Quote |
| NAPRT Knockout HCT 116 Cell Line | EDJ-KQ39180 | Human | 93100 | Details Get a Quote |
| NAPRT Knockout HeLa Cell Line | EDJ-KQ39181 | Human | 93100 | Details Get a Quote |
| APRT Knockout HCT 116 Cell Line | EDJ-KQ26442 | Human | 353 | Details Get a Quote |
| APRT Knockout HeLa Cell Line | EDJ-KQ26443 | Human | 353 | Details Get a Quote |
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