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PNP purine nucleoside phosphorylase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000270 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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Gene Symbol PNP
Entrez Gene ID 4860
Full Name purine nucleoside phosphorylase
Synonyms NP, PRO1837, PUNP
General protein information
Preferred Names
purine nucleoside phosphorylase
Names
purine nucleoside phosphorylase
inosine phosphorylase
inosine-guanosine phosphorylase
purine-nucleoside:orthophosphate ribosyltransferase
NP_000261.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q13.1

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].
Disorder

MIM: 164050

Immunodeficiency due to purine nucleoside phosphorylase deficiency,

mRNA Protein Product Sequence Price Select
NM_000270, 270288734 NP_000261, 157168362 purine nucleoside phosphorylase ORF Sequence $199.00
KEGG
hsa00230Purine metabolism
hsa00240Pyrimidine metabolism
hsa00760Nicotinate and nicotinamide metabolism
BIOCYC
META_PWY-5695urate biosynthesis/inosine 5'-phosphate degradation
META_PWY-4202arsenate detoxification I (glutaredoxin)
META_PWY0-1296purine ribonucleosides degradation
HUMAN_SALVADEHYPOX-PWYadenosine nucleotides degradation II
HUMAN_SALVPURINE2-PWYxanthine and xanthosine salvage
HUMAN_PWY-4202arsenate detoxification I (glutaredoxin)
HUMAN_PWY0-1296purine ribonucleosides degradation to ribose-1-phosphate
HUMAN_PWY-6608guanosine nucleotides degradation III
HUMAN_PWY-5695urate biosynthesis/inosine 5'-phosphate degradation
HUMAN_PWY-6353purine nucleotides degradation II (aerobic)
META_PWY-6609adenine and adenosine salvage III
HUMAN_PWY-6609adenine and adenosine salvage III
HUMAN_PWY-6620guanine and guanosine salvage I
META_PWY66-409superpathway of purine nucleotide salvage (mammalia)
Reactome
REACT_1923Purine salvage
REACT_2086Purine catabolism
REACT_522Purine metabolism
REACT_1698Metabolism of nucleotides
REACT_111217Metabolism
Homo sapiens (human)PNPNP_000261.2
Pan troglodytes (chimpanzee)PNPXP_001140576.1
Macaca mulatta (Rhesus monkey)LOC710245XP_001104622.1
Canis lupus familiaris (dog)PNPXP_532617.2
Bos taurus (cattle)PNPNP_001007819.1
Bos taurus (cattle)LOC790312XP_002690791.3
Mus musculus (house mouse)Pnp2NP_001116843.1
Mus musculus (house mouse)PnpNP_038660.1
Rattus norvegicus (Norway rat)PnpNP_001099501.1
Gallus gallus (chicken)PNPXP_003641950.2
Drosophila melanogaster (fruit fly)CG16758NP_001261330.1
Caenorhabditis elegansK02D7.1NP_499900.1
Xenopus (Silurana) tropicalis (western clawed frog)pnpNP_001006720.1
Process
IDNameEvidence
GO:0006139nucleobase-containing compound metabolic processIDA
GO:0006144purine nucleobase metabolic processTAS
GO:0006148inosine catabolic processIDA
GO:0006195purine nucleotide catabolic processTAS
GO:0006738nicotinamide riboside catabolic processIDA
GO:0006955immune responseIMP
GO:0034356NAD biosynthesis via nicotinamide riboside salvage pathwayIGI
GO:0034418urate biosynthetic processIDA
GO:0042102positive regulation of T cell proliferationIDA
GO:0042493response to drugIDA
GO:0042493response to drugIMP
GO:0043101purine-containing compound salvageTAS
GO:0044281small molecule metabolic processTAS
GO:0046638positive regulation of alpha-beta T cell differentiationIDA
GO:0055086nucleobase-containing small molecule metabolic processTAS
GO:0070970interleukin-2 secretionIMP
Component
IDNameEvidence
GO:0005622intracellularIDA
GO:0005737cytoplasmIDA
GO:0005829cytosolTAS
GO:0005856cytoskeletonIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0001882nucleoside bindingIDA
GO:0002060purine nucleobase bindingIDA
GO:0004731purine-nucleoside phosphorylase activityEXP
GO:0004731purine-nucleoside phosphorylase activityIDA
GO:0008144drug bindingIDA
GO:0042301phosphate ion bindingIDA
GeneCards PNP
PDB 2A0W, 2ON6, 1V45, 3K8Q, 1RFG, 4ECE, 1PWY, 1RCT, 3GB9, 4EB8, 1YRY, 1ULA, 1RT9, 1V41, 2A0X, 1ULB, 2OC9, 3BGS, 1PF7, 1V3Q, 1RR6, 3GGS, 3INY, 2Q7O, 1V2H, 4EAR, 4GKA, 3K8O, 1M73, 1RSZ, 3D1V, 2A0Y, 3PHB, 2OC4
UniProt V9HWH6, P00491
MIM 164050
HGNC 7892
HPRD 01247

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PNP gene?

The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders by making immune proteins called antibodies that tag foreign particles and germs for destruction or by directly attacking virus-infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus and lymph nodes, and then released into the blood. The thymus is a gland located behind the breastbone; lymph nodes are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system.

Purine nucleoside phosphorylase is known as a housekeeping enzyme because it clears away waste molecules called deoxyinosine and deoxyguanosine, which are generated when DNA is broken down. Specifically, purine nucleoside phosphorylase converts deoxyinosine to another molecule called hypoxanthine, and converts deoxyguanosine to another molecule called guanine.

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