PNP

GENE INFORMATION

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Gene name

PNP (HGNC Symbol)

Synonyms

NP, PUNP

Description

purine nucleoside phosphorylase (HGNC Symbol)

Entrez gene 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]

Chromosome

14 (Chromosome progress)

Cytoband

q11.2

Chromosome location (bp)

20937113 - 20945253

Ensembl

ENSG00000198805 (version 73.37)

Entrez gene

4860

UniProt

P00491 (UniProt - Evidence at protein level)

neXtProt

NX_P00491

Antibodypedia

PNP antibodies
 

PROTEIN VIEW

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PNP-001
 
PNP-007
 
PNP-009
 
PNP-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNP-001 ENSP00000354532
ENST00000361505
P00491
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Show » Show » 289 32.1 No 0
PNP-007 ENSP00000450663
ENST00000553418
G3V2H3
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Show » 93 10.5 No 0
PNP-009 ENSP00000451108
ENST00000554065
G3V393
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Show » 61 6.9 No 0
PNP-010 ENSP00000452421
ENST00000553591
G3V5M2
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Show » Show » 221 24.5 Yes 0