PNP Gene: Purine Nucleoside Phosphorylase
Genetic and functional insights into PNP deficiency and associated disorders
Gene Information Card
| Symbol | PNP |
|---|---|
| Full Name | Purine Nucleoside Phosphorylase |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 4860 ncbi.nlm.nih.gov/gene/4860 |
| Ensembl ID | ENSG00000198805 |
| UniProt ID | P00491 |
| OMIM ID | 164050 |
| HGNC ID | 9206 |
| Aliases | NP, PRO1837 |
Description
The PNP gene encodes purine nucleoside phosphorylase, an enzyme involved in the purine salvage pathway. It catalyzes the reversible phosphorolysis of purine nucleosides (inosine, guanosine, and their deoxy forms) to purine bases and ribose-1-phosphate. Deficiency of this enzyme leads to accumulation of deoxyguanosine triphosphate (dGTP), which is toxic to T lymphocytes, resulting in severe combined immunodeficiency (SCID).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Purine-nucleoside phosphorylase deficiency (PNP deficiency) | Loss-of-function mutations impair enzyme activity, causing accumulation of deoxyguanosine and dGTP, leading to T-cell lymphotoxicity and immunodeficiency. | ClinVar, OMIM |
| Severe combined immunodeficiency (SCID) due to PNP deficiency | Same mechanism as above; PNP deficiency accounts for ~4% of SCID cases. | OMIM, NCBI |
| Autoimmune hemolytic anemia | Associated with PNP deficiency in some patients due to immune dysregulation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 28.5 | High |
| Liver | 22.3 | High |
| Spleen | 18.7 | High |
| Lung | 12.1 | Medium |
| Heart | 9.8 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.0 | High expression |
| K-562 | 20.3 | High expression |
| HeLa | 15.6 | Medium expression |
| HepG2 | 18.2 | High expression |
| Jurkat | 22.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.70C>T (p.Arg24Ter) | Nonsense | Rare | Loss of function; premature stop codon |
| c.286G>A (p.Gly96Arg) | Missense | Rare | Reduced enzyme activity |
| c.569G>A (p.Arg190Gln) | Missense | Rare | Impaired substrate binding |
| c.682C>T (p.Arg228Ter) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Most PNP mutations are loss-of-function, leading to enzyme deficiency and accumulation of toxic metabolites.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; PNP deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • purine-nucleoside phosphorylase activity (GO:0004731) | • purine ribonucleoside salvage (GO:0006166) |
| • nucleoside metabolic process (GO:0009116) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Purine salvage pathway (Reactome: R-HSA-74217)
Protein Summary
Purine nucleoside phosphorylase (PNP) is a homotrimeric enzyme that catalyzes the reversible phosphorolysis of purine nucleosides. It is critical for purine salvage and nucleotide homeostasis. Deficiency leads to selective T-cell immunodeficiency due to dGTP accumulation. The protein is expressed in many tissues, with highest levels in kidney, liver, and spleen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPLA1 Knockout HEK293 Cell Line | EDJ-KQ1972 | Human | 285848 | Details Get a Quote |
| PNP Knockout HEK293 Cell Line | EDJ-KQ2248 | Human | 4860 | Details Get a Quote |
| PNPO Knockout HEK293 Cell Line | EDJ-KQ2678 | Human | 55163 | Details Get a Quote |
| PNPLA2 Knockout HEK293 Cell Line | EDJ-KQ3484 | Human | 57104 | Details Get a Quote |
| PNPLA6 Knockout HEK293 Cell Line | EDJ-KQ3824 | Human | 10908 | Details Get a Quote |
| PNPLA7 Knockout HEK293 Cell Line | EDJ-KQ3890 | Human | 375775 | Details Get a Quote |
| XPNPEP2 Knockout HEK293 Cell Line | EDJ-KQ6018 | Human | 7512 | Details Get a Quote |
| XPNPEP1 Knockout HEK293 Cell Line | EDJ-KQ6020 | Human | 7511 | Details Get a Quote |
| PNPLA4 Knockout HEK293 Cell Line | EDJ-KQ6184 | Human | 8228 | Details Get a Quote |
| PNPLA8 Knockout HEK293 Cell Line | EDJ-KQ10790 | Human | 50640 | Details Get a Quote |
| PNPLA5 Knockout HEK293 Cell Line | EDJ-KQ11283 | Human | 150379 | Details Get a Quote |
| PNPLA3 Knockout HEK293 Cell Line | EDJ-KQ14822 | Human | 80339 | Details Get a Quote |
| XPNPEP3 Knockout HEK293 Cell Line | EDJ-KQ16163 | Human | 63929 | Details Get a Quote |
| PNPLA6 Knockout A-549 Cell Line | EDJ-KQ25967 | Human | 10908 | Details Get a Quote |
| PNPLA6 Knockout HCT 116 Cell Line | EDJ-KQ25968 | Human | 10908 | Details Get a Quote |
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