PNP

GENERAL INFORMATION

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Gene name

PNP

Gene description

Purine nucleoside phosphorylase

Protein class

Cytoskeleton related proteins
Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Distinct cytoplasmic and membranous immunoreactivity was observed in most normal tissues. Strongest staining was displayed in the gastrointestinal tract. Salivary gland, renal glomeruli, most cells in CNS, mesenchymal cells and myocytes were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA001625
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q11.2

Chromosome location (bp)

20468954 - 20477094

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198805 (version 78.38)

Entrez gene

4860

UniProt

P00491 (UniProt - Evidence at protein level)

neXtProt

NX_P00491

Antibodypedia

PNP antibodies


PROTEIN BROWSER

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ENST00000361505
 
ENST00000553418
 
ENST00000553591
 
ENST00000554065
 
 
 
 


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