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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 (Purine Nucleoside Phosphorylase) is a Protein Coding gene. Diseases associated with PNP include Purine Nucleoside Phosphorylase Deficiency and Adenosine Deaminase Deficiency. Among its related pathways are Metabolism of nucleotides and ATP/ITP metabolism. Gene Ontology (GO) annotations related to this gene include drug binding and nucleoside binding. An important paralog of this gene is MTAP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001882 | nucleoside binding | IDA | 9305962 |
GO:0002060 | purine nucleobase binding | IDA | 9305962 |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004731 | purine-nucleoside phosphorylase activity | IEA,IDA | 3029074 |
GO:0008144 | drug binding | IDA | 18938130 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IBA,IDA | 3029074 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides |
.01
|
|
2 | Innate Immune System |
.61
|
|
3 | Metabolism |
.40
|
|
4 | NAD metabolism |
NAD metabolism
.53
|
|
5 | ATP/ITP metabolism |
ATP/ITP metabolism
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006139 | nucleobase-containing compound metabolic process | IEA,IDA | 3029074 |
GO:0006148 | inosine catabolic process | IDA | 16964310 |
GO:0006195 | purine nucleotide catabolic process | TAS | -- |
GO:0006738 | nicotinamide riboside catabolic process | IDA | 19001417 |
GO:0006955 | immune response | IMP | 16930574 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Didanosine | Approved | Pharma | Target, substrate | 152 | ||
Cladribine | Approved, Investigational | Pharma | Target, inducer | Apoptosis inducer in CLL cells | 105 | |
Adenine | Approved | Nutra | 0 | |||
Adenosine | Approved, Investigational | Pharma | Agonist, Channel blocker | 619 | ||
Nicotinamide | Approved, Investigational | Pharma | 427,427 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
deoxyadenosine |
|
958-09-8 | ||||
deoxyguanosine |
|
961-07-9 | ||||
purine |
|
120-73-0 | ||||
ribose 1-phosphate |
|
14075-00-4 | ||||
xanthosine |
|
146-80-5 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PNP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
PNP 30 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Pnp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pnp 30 17 31 |
|
OneToMany | |
Pnp2 17 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | PNP 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PNP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PNP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PNP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pnp 30 |
|
||
Str.8263 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | pnp6 31 |
|
OneToMany | |
pnp5a 31 |
|
OneToMany | |||
pnp4a 31 |
|
OneToMany | |||
pnp5b 31 |
|
OneToMany | |||
pnp4b 31 |
|
OneToMany | |||
wufc27g06 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005945 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG16758 30 31 |
|
OneToMany | |
CG18128 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | K02D7.1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PNP1 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR198W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C16621g 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1805.16c 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7856 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636509 | Conflicting Interpretations: Purine-nucleoside phosphorylase deficiency; not provided | 20,476,500(+) | C/G | MISSENSE_VARIANT | |
636518 | Likely Pathogenic: not provided | 20,474,924(+) | C/T | MISSENSE_VARIANT | |
636526 | Likely Pathogenic: not provided | 20,475,147(+) | G/T | NONSENSE | |
644257 | Uncertain Significance: Purine-nucleoside phosphorylase deficiency | 20,472,374(+) | A/G | SYNONYMOUS_VARIANT | |
651865 | Uncertain Significance: Purine-nucleoside phosphorylase deficiency | 20,475,153(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
purine nucleoside phosphorylase deficiency |
|
|
adenosine deaminase deficiency |
|
|
lesch-nyhan syndrome |
|
|
severe combined immunodeficiency |
|
|
molybdenum cofactor deficiency |
|