Nucleoside Phosphorylase (NP)

PNP; PUNP; Purine Nucleoside Phosphorylase; Inosine phosphorylase; Inosine-guanosine phosphorylase

SPN	U170
HGNC	7892
MGI	97365
PubMed	15649395
RGD	1597189
UniProt	P00491
Wiki	NP

NP encodes the enzyme purine nucleoside phosphorylase that together with adenosine deaminase (ADA) serves a key role in purine catabolism, referred to as the salvage pathway. Mutations in either enzyme result in a severe combined immunodeficiency (SCID).

Nucleoside phosphorylase is an enzyme which, as its name implies, phosphorylates a nucleoside to produce a nucleotide monophosphate. It is one enzyme of the nucleotide salvage pathways. These pathways allow the cell to produce nucleotide monophosphates when the de novo synthesis pathway has been interrupted or is non-existent (as is the case in the brain). Often the de novo pathway is interrupted as a result of chemotherapy drugs such as methotrexate or aminopterin.

Reference

"Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization."
Nucleic Acids Res. 12:5779-5787(1984) [PubMed] [Europe PMC] [Abstract]

"A human purine nucleoside phosphorylase deficiency caused by a single base change."
J. Biol. Chem. 262:2332-2338(1987) [PubMed] [Europe PMC] [Abstract]

"Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans."
Environ. Health Perspect. 111:1421-1427(2003) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

, Submitted (FEB-2006) to UniProtKB

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"Assessment of the red cell proteome of young patients with unexplained hemolytic anemia by two-dimensional differential in-gel electrophoresis (DIGE)."
PLoS ONE 7:E34237-E34237(2012) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2-A resolution."
J. Biol. Chem. 265:1812-1820(1990) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency."
Am. J. Hum. Genet. 51:763-772(1992) [PubMed] [Europe PMC] [Abstract]

"Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient."
Hum. Genet. 98:706-709(1996) [PubMed] [Europe PMC] [Abstract]