PRPSAP2
Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2
Gene Information Card
| Symbol | PRPSAP2 |
|---|---|
| Full Name | Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 5636 ncbi.nlm.nih.gov/gene/5636 |
| Ensembl ID | ENSG00000108349 |
| UniProt ID | O60256 |
| OMIM ID | 603762 |
| HGNC ID | 9466 |
| Aliases | PAP39, PRPSAP2 |
Description
PRPSAP2 encodes a protein that associates with phosphoribosyl pyrophosphate synthetase (PRPS) to modulate its activity. PRPS catalyzes the synthesis of phosphoribosyl pyrophosphate (PRPP), a key intermediate in purine and pyrimidine nucleotide biosynthesis. The encoded protein is one of two known PRPS-associated proteins (PAPs) that regulate PRPS activity through heteromeric complex formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease, axonal, type 2EE (CMT2EE) | Missense mutations in PRPSAP2 disrupt PRPP synthetase regulation, impairing nucleotide metabolism in peripheral nerves | ClinVar, OMIM |
| Hereditary sensory and autonomic neuropathy type IX (HSAN9) | Loss-of-function variants lead to reduced PRPS activity and neuronal dysfunction | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Heart | 9.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Moderate expression |
| SH-SY5Y | 18.3 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337G>A (p.Gly113Arg) | Missense | Rare | Impaired PRPS binding and reduced enzyme activity |
| c.494C>T (p.Thr165Met) | Missense | Rare | Altered protein stability and complex formation |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish PRPSAP2 protein function, leading to decreased PRPS activity and nucleotide imbalance.
Gain of Function (GOF)
No gain-of-function mutations reported in PRPSAP2.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly113Arg) may exert dominant-negative effects by forming non-functional complexes with wild-type PRPS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Purine metabolism (KEGG: hsa00230)
• Pentose phosphate pathway (KEGG: hsa00030)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PRPSAP2 is a 39 kDa protein that forms heteromeric complexes with PRPS1 and PRPS2 to regulate phosphoribosyl pyrophosphate synthetase activity. It contains a conserved PRPS-associated domain and is expressed in multiple tissues, with highest levels in brain and testis. The protein modulates nucleotide biosynthesis by controlling PRPP availability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRPSAP2 Knockout HEK293 Cell Line | EDJ-KQ5554 | Human | 5636 | Details Get a Quote |
| PRPSAP2 Knockout A-549 Cell Line | EDJ-KQ28819 | Human | 5636 | Details Get a Quote |
| PRPSAP2 Knockout HCT 116 Cell Line | EDJ-KQ28820 | Human | 5636 | Details Get a Quote |
| PRPSAP2 Knockout HeLa Cell Line | EDJ-KQ28821 | Human | 5636 | Details Get a Quote |
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