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PNP

GENERAL INFORMATION

Gene name

 PNP

Gene description

 Purine nucleoside phosphorylase

Protein class

 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

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues, highly abundant in epididymis, kidney and the gastrointestinal tract. Distinct positivity in red blood cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. External characterization data supports antibody staining.

Reliability score

 Supported based on 1 antibody.
HPA001625
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Epididymis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 4860

UniProt

 P00491 (UniProt - Evidence at protein level)

neXtProt

 NX_P00491

Antibodypedia

 PNP antibodies

PROTEIN BROWSER
PNP-001
PNP-007
PNP-009
PNP-010

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PNP-001
ENSP00000354532
ENST00000361505
P00491 [Direct mapping]
Purine nucleoside phosphorylase
V9HWH6 [Target identity:100%; Query identity:100%]
Purine nucleoside phosphorylase
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Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001882 [nucleoside binding]
GO:0002060 [purine nucleobase binding]
GO:0003824 [catalytic activity]
GO:0004731 [purine-nucleoside phosphorylase activity]
GO:0005576 [extracellular region]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0006144 [purine nucleobase metabolic process]
GO:0006148 [inosine catabolic process]
GO:0006195 [purine nucleotide catabolic process]
GO:0006738 [nicotinamide riboside catabolic process]
GO:0006955 [immune response]
GO:0008144 [drug binding]
GO:0009116 [nucleoside metabolic process]
GO:0016763 [transferase activity, transferring pentosyl groups]
GO:0034356 [NAD biosynthesis via nicotinamide riboside salvage pathway]
GO:0034418 [urate biosynthetic process]
GO:0042102 [positive regulation of T cell proliferation]
GO:0042278 [purine nucleoside metabolic process]
GO:0042301 [phosphate ion binding]
GO:0042493 [response to drug]
GO:0043101 [purine-containing compound salvage]
GO:0044281 [small molecule metabolic process]
GO:0046638 [positive regulation of alpha-beta T cell differentiation]
GO:0055086 [nucleobase-containing small molecule metabolic process]
GO:0070062 [extracellular exosome]
GO:0070970 [interleukin-2 secretion]
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 289 aa
32.1 kDa 		No 0
PNP-007
ENSP00000450663
ENST00000553418
G3V2H3 [Direct mapping]
Purine nucleoside phosphorylase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009116 [nucleoside metabolic process]
GO:0043101 [purine-containing compound salvage]
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 93 aa
10.5 kDa 		No 0
PNP-009
ENSP00000451108
ENST00000554065
G3V393 [Direct mapping]
Purine nucleoside phosphorylase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0009116 [nucleoside metabolic process]
GO:0043101 [purine-containing compound salvage]
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 61 aa
6.9 kDa 		No 0
PNP-010
ENSP00000452421
ENST00000553591
G3V5M2 [Direct mapping]
Purine nucleoside phosphorylase
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   SPOCTOPUS predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0004731 [purine-nucleoside phosphorylase activity]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0009116 [nucleoside metabolic process]
GO:0016763 [transferase activity, transferring pentosyl groups]
GO:0043101 [purine-containing compound salvage]
Show all
 221 aa
24.5 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.