PNP Gene Summary [Human]
This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PNP |
| Official Name | purine nucleoside phosphorylase [Source:HGNC Symbol;Acc:HGNC:7892] |
| Ensembl ID | ENSG00000198805 |
| Bio databases IDs | |
| Aliases | purine nucleoside phosphorylase |
| Synonyms | Nicotinamide Nucleoside Phosphorylase, NP, Np-1, Np-2, NUCLEOSIDE PHOSPHORYLASE, Pnp1, PNPH, PRO1837, PUNP, purine-nucleoside phosphorylase, PURINE PHOSPHORYLASE |
| Species | Human, Homo sapiens |
| 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 human PNP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- purine-nucleoside phosphorylase
- nucleoside phosphorylase-I family
- enzyme
- protein binding
- phosphate binding
- identical protein binding
- guanosine phosphorylase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- purine nucleoside phosphorylase deficiency
- peripheral T-cell lymphoma
- pervasive developmental disorder
- renal cell carcinoma
- renal cell cancer
- severe combined immunodeficiency
- relapsed peripheral T-cell lymphoma
- HER2 negative hormone receptor negative breast cancer
role in cell
- expression in
- quantity
- proliferation
- apoptosis
- number
- response
- cytotoxicity
- differentiation
- morphology
- function
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
- ficolin-1-rich granule lumen
- Extracellular Space
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nucleotide biosynthetic process
- purine-containing compound salvage
- deoxyadenosine catabolic process
- dAMP catabolic process
- purine ribonucleoside salvage
- positive regulation of T cell proliferation
- response to xenobiotic stimulus
- deoxyinosine catabolic process
- IMP catabolic process
- positive regulation of alpha-beta T cell differentiation
- nucleobase-containing compound metabolic process
- allantoin metabolic process
- inosine catabolic process
- immune response
- urate biosynthetic process
- nicotinamide riboside catabolic process
- positive regulation of interleukin-2 production
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
- secretory granule lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- purine base binding
- guanosine phosphorylase activity
- phosphate ion binding
- purine-nucleoside phosphorylase activity
- nucleoside binding