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PNP purine nucleoside phosphorylase [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000270 Homo sapiens purine nucleoside phosphorylase (PNP), mRNA. ORF Sequence $252.30
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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, 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 Full Length $707.02
ORF Sequence $252.30
KEGG
hsa00230Purine metabolism
hsa00240Pyrimidine metabolism
hsa00760Nicotinate and nicotinamide metabolism
BIOCYC
HUMAN_PWY-5695urate biosynthesis/inosine 5'-phosphate degradation
META_PWY0-1296purine ribonucleosides degradation to ribose-1-phosphate
HUMAN_SALVPURINE2-PWYxanthine and xanthosine salvage
META_PWY-6353purine nucleotides degradation II (aerobic)
HUMAN_PWY-6620guanine and guanosine salvage I
META_SALVADEHYPOX-PWYadenosine nucleotides degradation II
HUMAN_PWY-6353purine nucleotides degradation II (aerobic)
HUMAN_PWY-4202arsenate detoxification I (glutaredoxin)
HUMAN_SALVADEHYPOX-PWYadenosine nucleotides degradation II
META_PWY-4202arsenate detoxification I (glutaredoxin)
HUMAN_PWY-6609adenine and adenosine salvage III
HUMAN_PWY0-1296purine ribonucleosides degradation to ribose-1-phosphate
META_PWY-6608guanosine nucleotides degradation III
META_PWY-6609adenine and adenosine salvage III
HUMAN_PWY-6608guanosine nucleotides degradation III
Reactome
REACT_522Purine metabolism
REACT_1698Metabolism of nucleotides
REACT_1923Purine salvage
REACT_111217Metabolism
REACT_2086Purine catabolism
Homo sapiens (human)PNPNP_000261.2
Pan troglodytes (chimpanzee)PNPXP_001140576.1
Macaca mulatta (Rhesus monkey)PNPXP_001092508.1
Macaca mulatta (Rhesus monkey)LOC710245XP_001104622.1
Canis lupus familiaris (dog)PNPXP_003432054.1
Bos taurus (cattle)PNPNP_001007819.1
Bos taurus (cattle)LOC790312XP_002690791.2
Mus musculus (house mouse)Pnp2NP_001116843.1
Mus musculus (house mouse)PnpNP_038660.1
Rattus norvegicus (Norway rat)PnpNP_001099501.1
Gallus gallus (chicken)LOC769958XP_003641950.1
Drosophila melanogaster (fruit fly)CG16758NP_647727.2
Caenorhabditis elegansK02D7.1NP_499900.1
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 P00491
MIM 164050
Ensembl ENSG00000198805
HGNC 7892
HPRD 01247

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

General protein information

Preferred Names
purine nucleoside phosphorylase
Names
purine nucleoside phosphorylase
inosine phosphorylase
inosine-guanosine phosphorylase
purine-nucleoside:orthophosphate ribosyltransferase
NP_000261.2

Interactant

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