PNP - purine nucleoside phosphorylase Gene
Also Known as NP; PUNP; PRO1837
Species: Homo sapiens
About PNP
This gene has 11 transcripts (splice variants), 540 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 94.2), kidney (RPKM 44.4) and 18 other tissues.
Summary
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]
PNP Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000270.4 | NP_000261.2 | purine nucleoside phosphorylase |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
20212140 | GOA |
| enables nucleoside binding |
IDA
IDA: Inferred from direct assay
|
9305962 | GOA |
| enables phosphate ion binding |
IDA
IDA: Inferred from direct assay
|
18938130 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| enables purine nucleobase binding |
IDA
IDA: Inferred from direct assay
|
9305962 | GOA |
| enables purine-nucleoside phosphorylase activity |
IDA
IDA: Inferred from direct assay
|
3029074 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
3029074 | GOA |
PNP Protein Structure
PNP_UDP_1: Phosphorylase superfamily (27 - 275)
- 0
- 100
- 200
- 289 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
purine nucleoside phosphorylase |
|
PNP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PNP | P00491 | SORL1 | Homo sapiens | Q92673 | 32814053 | |
|
Intra
|
PNP | P00491 | SORL1 | Homo sapiens | Q92673 | 32814053 | |
|
Intra
|
PNP | P00491 | SORL1 | Homo sapiens | Q92673 | 32814053 | |
|
Intra
|
PNP | P00491 | PINK1 | Homo sapiens | Q9BXM7 | 32814053 | |
|
Intra
|
PNP | P00491 | PINK1 | Homo sapiens | Q9BXM7 | 32814053 | |
|
Intra
|
PNP | P00491 | PINK1 | Homo sapiens | Q9BXM7 | 32814053 | |
|
Intra
|
PNP | P00491 | PNP | Homo sapiens | P00491 | 25502805 | |
|
Intra
|
PNP | P00491 | PNP | Homo sapiens | P00491 | 32296183 | |
|
Intra
|
PNP | P00491 | PNP | Homo sapiens | P00491 | 32296183 | |
|
Intra
|
PNP | P00491 | PNP | Homo sapiens | P00491 | 20212140 | |
|
Intra
|
PNP | P00491 | PNP | Homo sapiens | P00491 | 31515488 | |
|
Intra
|
PNP | P00491 | PNP | Homo sapiens | P00491 | 32296183 |
Recombinant PNP Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74665 | Nucleoside phosphorylase/PNP Protein, Human (His) | P00491 (M1-S289) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Purine Nucleoside Phosphorylase Deficiency |
|
|
| Adenosine Deaminase Deficiency |
|
|
| Lesch-Nyhan Syndrome |
|
|
| Molybdenum Cofactor Deficiency |
|
|
| Purine-Pyrimidine Metabolic Disorder |
|
|
| Severe Combined Immunodeficiency |
|
|
| Gout |
|
|
| Combined Immunodeficiency |
|
|
| Hemolytic Anemia |
|
|
| Pellagra |
|
|
| Primary Cutaneous T-Cell Non-Hodgkin Lymphoma |
|
|
| Hyperuricemia, Hprt-Related |
|
|
| Reticular Dysgenesis |
|
|
| Common Variable Immunodeficiency |
|
|
| Maxillary Sinus Squamous Cell Carcinoma |
|
|
| Maxillary Sinus Cancer |
|
|
| Immune Deficiency Disease |
|
|
| Pancreatic Cancer |
|
|
| T Cell Deficiency |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Bare Lymphocyte Syndrome, Type Ii |
|
|
| Hematologic Cancer |
|
|
| Omenn Syndrome |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | PNP | RGD | RGD:1597189 |
| Canis familiaris | PNP | VGNC | VGNC:44751 |
| Felis catus | PNP | VGNC | VGNC:80883 |
| Others | PNP | NCBI |