PRPSAP1
Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 1
Gene Information Card
| Symbol | PRPSAP1 |
|---|---|
| Full Name | Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 5635 ncbi.nlm.nih.gov/gene/5635 |
| Ensembl ID | ENSG00000161509 |
| UniProt ID | Q14558 |
| OMIM ID | 601249 |
| HGNC ID | 9465 |
| Aliases | PAP39, PRPSAP1 |
Description
PRPSAP1 encodes a protein that associates with phosphoribosyl pyrophosphate synthetase (PRPS) and modulates its activity. PRPS catalyzes the synthesis of phosphoribosyl pyrophosphate (PRPP), a key substrate in purine and pyrimidine nucleotide biosynthesis. The encoded protein is thought to regulate PRPS activity and may play a role in cellular nucleotide homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Phosphoribosylpyrophosphate synthetase superactivity | Overexpression or gain-of-function of PRPS leads to increased PRPP and uric acid production; PRPSAP1 may modulate this activity indirectly. | ClinVar, OMIM |
| Gout | Altered PRPS activity can cause hyperuricemia; PRPSAP1 variants may contribute to susceptibility. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 7.9 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.482G>A (p.Arg161Gln) | missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion binding (GO:0000287) | • ribose phosphate diphosphokinase activity (GO:0004749) |
| • ATP binding (GO:0005524) | • ribonucleoside monophosphate biosynthetic process (GO:0009156) |
Pathways
• Purine metabolism (Reactome: R-HSA-73817)
• Metabolism of nucleotides (Reactome: R-HSA-15869)
Protein Summary
PRPSAP1 is a 39 kDa protein that forms a complex with PRPS1 and PRPS2, modulating their enzymatic activity. It contains a conserved PRPS-associated domain and is ubiquitously expressed, with highest levels in testis. The protein may act as a negative regulator of PRPS activity, thereby influencing nucleotide pool balance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPSAP1 Knockout HEK293 Cell Line | EDJ-KQ5549 | Human | 5635 | Details Get a Quote |
| PRPSAP1 Knockout HCT 116 Cell Line | EDJ-KQ27558 | Human | 5635 | Details Get a Quote |
| PRPSAP1 Knockout A-549 Cell Line | EDJ-KQ28810 | Human | 5635 | Details Get a Quote |
| PRPSAP1 Knockout HeLa Cell Line | EDJ-KQ28812 | Human | 5635 | Details Get a Quote |
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