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MGP002121

Record overview

MGPD IDMGP002121
Gene ID4860
SpeciesHomo sapiens (Human)
Gene Namepurine nucleoside phosphorylase
Gene Symbol PNP
SynonymsNP; PUNP; PRO1837;
Alternate namespurine nucleoside phosphorylase; HEL-S-156an; epididymis secretory sperm binding protein Li 156an; inosine phosphorylase; inosine-guanosine phosphorylase; purine-nucleoside:orthophosphate ribosyltransferase;
Chromosome14
Map Location14q13.1
EC Number2.4.2.1
SummaryThis 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]
OrthologsView orthologs and multiple alignments for PNP

Proteins

purine nucleoside phosphorylase
Refseq ID:NP_000261
Protein GI:157168362
UniProt ID:P00491
mRNA ID:NM_000270
Length:289
RefSeq Status:
MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGHAGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPV
RVFHLLGVDTLVVTNAAGGLNPKFEVGDIMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTYVMVAGPSF
ETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKANHEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS
 
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