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PNP purine nucleoside phosphorylase [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000270 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. Full Length $707.02
ORF Sequence $252.30


Gene Symbol PNP
Entrez Gene ID 4860
Full Name purine nucleoside phosphorylase
Synonyms FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916, NP, PRO1837, PUNP
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].
Disorder

MIM: 164050

Immunodeficiency due to purine nucleoside phosphorylase deficiency,
mRNA NM_000270, 270288734
Protein NP_000261, 157168362
Product purine nucleoside phosphorylase
RefSeq Status REVIEWED
KEGG
hsa00240Pyrimidine metabolism
hsa00760Nicotinate and nicotinamide metabolism
hsa01100Metabolic pathways
hsa00230Purine metabolism
BIOCYC
META_PWY-4202arsenate detoxification I
META_PWY-6353purine degradation IV (aerobic)
Reactome
REACT_522Purine metabolism
REACT_2086Purine catabolism
REACT_1923Purine salvage
REACT_1698Metabolism of nucleotides
Homo sapiens (human)PNPNP_000261.2
Pan troglodytes (chimpanzee)PNPXP_001140492.1
Canis lupus familiaris (dog)PNPXP_532617.2
Bos taurus (cattle)PNPXP_001254560.1
Bos taurus (cattle)NPNP_001007819.1
Mus musculus (house mouse)Pnp2XP_998000.1
Mus musculus (house mouse)PnpNP_038660.1
Rattus norvegicus (Norway rat)NpXP_214155.2
Danio rerio (zebrafish)pnp5bNP_001004628.1
Danio rerio (zebrafish)pnp4aNP_001002102.1
Danio rerio (zebrafish)pnp4bNP_991206.1
Danio rerio (zebrafish)wu:fd51h11XP_002662771.1
Danio rerio (zebrafish)pnp6NP_991218.2
Danio rerio (zebrafish)pnp5aNP_998476.1
Drosophila melanogaster (fruit fly)CG16758NP_647727.2
Caenorhabditis elegansphosphorylaseNP_499900.1
Process
IDNameEvidence
GO:0006139nucleobase, nucleoside, nucleotide and nucleic acid metabolic processIDA
GO:0006144purine base metabolic processTAS
GO:0006148inosine catabolic processIDA
GO:0006195purine nucleotide catabolic processTAS
GO:0006738nicotinamide riboside catabolic processIDA
GO:0006955immune responseIMP
GO:0009116nucleoside metabolic processIEA
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:0046638positive regulation of alpha-beta T cell differentiationIDA
GO:0055086nucleobase, nucleoside and nucleotide metabolic processTAS
GO:0070970interleukin-2 secretionIMP
Component
IDNameEvidence
GO:0005622intracellularIDA
GO:0005737cytoplasmIDA
GO:0005829cytosolTAS
GO:0005856cytoskeletonIEA
Function
IDNameEvidence
GO:0001882nucleoside bindingIDA
GO:0002060purine base bindingIDA
GO:0004731purine-nucleoside phosphorylase activityIDA
GO:0004731purine-nucleoside phosphorylase activityTAS
GO:0008144drug bindingIDA
GO:0042301phosphate bindingIDA
GeneCards PNP
PDB 2A0W, 2ON6, 2OC9, 1V45, 3K8Q, 1RFG, 3BGS, 1V3Q, 1PF7, 1PWY, 3INY, 3GGS, 1RCT, 1RR6, 3GB9, 1YRY, 1ULA, 1RT9, 2Q7O, 1V2H, 1V41, 3K8O, 1M73, 2A0X, 1ULB, 1RSZ, 3D1V, 2A0Y, 2OC4
UniProt P00491
MIM 164050
Ensembl ENSG00000198805
HGNC 7892
HPRD 01247

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