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Aliases for PNP Gene

Aliases for PNP Gene

  • Purine Nucleoside Phosphorylase 2 3 5
  • Inosine-Guanosine Phosphorylase 3 4
  • Inosine Phosphorylase 3 4
  • EC 2.4.2.1 4 61
  • NP 3 4
  • Epididymis Secretory Sperm Binding Protein Li 156an 3
  • Purine-Nucleoside:Orthophosphate Ribosyltransferase 3
  • Nucleoside Phosphorylase 2
  • HEL-S-156an 3
  • PRO1837 3
  • PUNP 3

External Ids for PNP Gene

Previous HGNC Symbols for PNP Gene

  • NP

Previous GeneCards Identifiers for PNP Gene

  • GC14P020008
  • GC14P021021
  • GC14P001059

Summaries for PNP Gene

Entrez Gene Summary for PNP Gene

  • 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]

GeneCards Summary for PNP Gene

PNP (Purine Nucleoside Phosphorylase) is a Protein Coding gene. Diseases associated with PNP include Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency and Lesch-Nyhan Syndrome. Among its related pathways are Purine metabolism and Pyrimidine metabolism (KEGG). GO annotations related to this gene include drug binding and nucleoside binding.

UniProtKB/Swiss-Prot for PNP Gene

  • The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.

Gene Wiki entry for PNP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNP Gene

Genomics for PNP Gene

Regulatory Elements for PNP Gene

Enhancers for PNP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PNP on UCSC Golden Path with GeneCards custom track

Promoters for PNP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PNP on UCSC Golden Path with GeneCards custom track

Genomic Location for PNP Gene

Chromosome:
14
Start:
20,468,954 bp from pter
End:
20,478,006 bp from pter
Size:
9,053 bases
Orientation:
Plus strand

Genomic View for PNP Gene

Genes around PNP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNP Gene

Proteins for PNP Gene

  • Protein details for PNP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00491-PNPH_HUMAN
    Recommended name:
    Purine nucleoside phosphorylase
    Protein Accession:
    P00491
    Secondary Accessions:
    • B2R8S5
    • D3DS00
    • Q15160
    • Q5PZ03

    Protein attributes for PNP Gene

    Size:
    289 amino acids
    Molecular mass:
    32118 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for PNP Gene

neXtProt entry for PNP Gene

Selected DME Specific Peptides for PNP Gene

Post-translational modifications for PNP Gene

  • Ubiquitination at Lys 22, Lys 95, Lys 179, and Lys 211
  • Modification sites at PhosphoSitePlus

Other Protein References for PNP Gene

Domains & Families for PNP Gene

Suggested Antigen Peptide Sequences for PNP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00491

UniProtKB/Swiss-Prot:

PNPH_HUMAN :
  • Belongs to the PNP/MTAP phosphorylase family.
Family:
  • Belongs to the PNP/MTAP phosphorylase family.
genes like me logo Genes that share domains with PNP: view

No data available for Gene Families for PNP Gene

Function for PNP Gene

Molecular function for PNP Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate.
UniProtKB/Swiss-Prot Function:
The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.

Enzyme Numbers (IUBMB) for PNP Gene

Gene Ontology (GO) - Molecular Function for PNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001882 nucleoside binding IDA 9305962
GO:0002060 purine nucleobase binding IDA 9305962
GO:0004731 purine-nucleoside phosphorylase activity IEA,IDA 3029074
GO:0008144 drug binding IDA 18938130
GO:0042301 phosphate ion binding IDA 18938130
genes like me logo Genes that share ontologies with PNP: view
genes like me logo Genes that share phenotypes with PNP: view

Human Phenotype Ontology for PNP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PNP

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PNP Gene

Localization for PNP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNP Gene

Cytoplasm, cytoskeleton. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PNP Gene COMPARTMENTS Subcellular localization image for PNP gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 4
cytoskeleton 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for PNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005622 intracellular IDA 15047506
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 3029074
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PNP: view

Pathways & Interactions for PNP Gene

genes like me logo Genes that share pathways with PNP: view

UniProtKB/Swiss-Prot P00491-PNPH_HUMAN

  • Pathway: Purine metabolism; purine nucleoside salvage.

Gene Ontology (GO) - Biological Process for PNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IDA 3029074
GO:0006148 inosine catabolic process IDA 16964310
GO:0006195 purine nucleotide catabolic process TAS --
GO:0006738 nicotinamide riboside catabolic process IDA 19001417
GO:0006955 immune response IMP 16930574
genes like me logo Genes that share ontologies with PNP: view

No data available for SIGNOR curated interactions for PNP Gene

Drugs & Compounds for PNP Gene

(66) Drugs for PNP Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Didanosine Approved Pharma Target 150
Cladribine Approved, Investigational Pharma Target, inducer Apoptosis inducer in CLL cells 69
Adenine Approved Nutra 0
Adenosine Approved, Investigational Pharma Agonist 388
Phosphoric acid Approved Pharma 0

(60) Additional Compounds for PNP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
deoxyadenosine
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-b-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1,2-dideoxy-beta-delta-Ribofuranose
  • 2'-Deoxyadenosine
  • 2-Deoxyadenosine
958-09-8
deoxyguanosine
  • 2'-Deoxy-Guanosine
  • 2'-Deoxyguanosine
  • 2-Deoxyguanosine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)-Guanine
  • 9-(2-Deoxy-b-D-erythro-pentofuranosyl)guanine
961-07-9
purine
  • 1H-Purine
  • 6H-Imidazo[4,5-D]pyrimidine
  • 7-Methyltheophylline
  • 7H-Imidazo(4,5-D)pyrimidine
  • 7H-Purine
120-73-0
ribose 1-phosphate
  • 1-O-Phosphono-D-ribofuranose
  • a-D-Ribofuranose 1-(dihydrogen phosphate)
  • a-D-Ribose 1-phosphate
  • alpha-D-Ribofuranose 1-(dihydrogen phosphate)
  • alpha-D-Ribofuranose 1-phosphate
14075-00-4
xanthosine
  • 3,9-Dihydro-9-b-D-ribofuranosyl-1H-purine-2,6-dione
  • 3,9-Dihydro-9-beta-delta-ribofuranosyl-1H-purine-2,6-dione
  • 3,9-Dihydro-9-D-ribofuranosyl-1H-purine-2,6-dione
  • 3,9-Dihydro-9-delta-ribofuranosyl-1H-purine-2,6-dione
  • 9-b-D-Ribofuranosylxanthine
146-80-5
genes like me logo Genes that share compounds with PNP: view

Transcripts for PNP Gene

Unigene Clusters for PNP Gene

Purine nucleoside phosphorylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PNP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNP Gene

No ASD Table

Relevant External Links for PNP Gene

GeneLoc Exon Structure for
PNP
ECgene alternative splicing isoforms for
PNP

Expression for PNP Gene

mRNA expression in normal human tissues for PNP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PNP Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for PNP Gene

This gene is overexpressed in Platelet (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PNP Gene



Protein tissue co-expression partners for PNP Gene

NURSA nuclear receptor signaling pathways regulating expression of PNP Gene:

PNP

SOURCE GeneReport for Unigene cluster for PNP Gene:

Hs.75514

mRNA Expression by UniProt/SwissProt for PNP Gene:

P00491-PNPH_HUMAN
Tissue specificity: Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
genes like me logo Genes that share expression patterns with PNP: view

Primer Products

Orthologs for PNP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PNP 34
  • 87.91 (n)
  • 87.68 (a)
-- 35
  • 88 (a)
OneToMany
PNP 35
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PNP 34
  • 82.87 (n)
  • 84.37 (a)
PNP 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnp 34
  • 84.2 (n)
  • 84.43 (a)
Pnp2 16
Pnp 35
  • 84 (a)
OneToMany
Pnp2 35
  • 78 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia PNP 34
  • 99.31 (n)
  • 99.31 (a)
PNP 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnp 34
  • 84.78 (n)
  • 87.02 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 70 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PNP 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNP 34
  • 62.32 (n)
  • 61.96 (a)
PNP 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNP 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnp 34
  • 63.24 (n)
  • 66.31 (a)
Str.8263 34
zebrafish
(Danio rerio)
Actinopterygii wufc27g06 34
pnp4a 35
  • 59 (a)
OneToMany
pnp4b 35
  • 55 (a)
OneToMany
pnp5a 35
  • 61 (a)
OneToMany
pnp5b 35
  • 56 (a)
OneToMany
pnp6 35
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005945 34
  • 55.91 (n)
  • 55.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16758 34
  • 55.36 (n)
  • 51.24 (a)
CG16758 35
  • 36 (a)
OneToMany
CG18128 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K02D7.1 34
  • 50.19 (n)
  • 47.49 (a)
K02D7.1 35
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR198W 34
  • 52.75 (n)
  • 48.35 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16621g 34
  • 51.55 (n)
  • 49.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNP1 34
  • 54.81 (n)
  • 52.43 (a)
PNP1 35
  • 43 (a)
OneToOne
PNP1 37
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1805.16c 34
  • 53.86 (n)
  • 52.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7856 35
  • 51 (a)
OneToOne
Species where no ortholog for PNP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PNP Gene

ENSEMBL:
Gene Tree for PNP (if available)
TreeFam:
Gene Tree for PNP (if available)

Paralogs for PNP Gene

Pseudogenes.org Pseudogenes for PNP Gene

genes like me logo Genes that share paralogs with PNP: view

No data available for Paralogs for PNP Gene

Variants for PNP Gene

Sequence variations from dbSNP and Humsavar for PNP Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1049564 - 20,472,447(-) TTCAC(C/T)GTAGT reference, missense
rs104894453 Purine nucleoside phosphorylase deficiency (PNPD) 20,474,555(+) TGTAT(A/G)AAGGG reference, missense
rs104894450 Purine nucleoside phosphorylase deficiency (PNPD) 20,474,870(+) TGGAG(A/G)TATCA reference, missense
rs104894454 Purine nucleoside phosphorylase deficiency (PNPD) 20,475,120(+) AGAGG(C/G/T)CTCTC reference, missense
rs104894451 Purine nucleoside phosphorylase deficiency (PNPD) 20,476,432(+) ACTTC(A/C/G)AGTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PNP Gene

Variant ID Type Subtype PubMed ID
esv23438 CNV gain+loss 19812545

Variation tolerance for PNP Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.04; 84.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNP Gene

Human Gene Mutation Database (HGMD)
PNP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNP Gene

Disorders for PNP Gene

MalaCards: The human disease database

(16) MalaCards diseases for PNP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency due to purine nucleoside phosphorylase deficiency
  • purine nucleoside phosphorylase deficiency
lesch-nyhan syndrome
  • complete hypoxanthine-guanine phosphoribosyltransferase deficiency
exhibitionism
paraphilia disorder
pedophilia
  • paedophilia
- elite association - COSMIC cancer census association via MalaCards
Search PNP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PNPH_HUMAN
  • Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. {ECO:0000269 PubMed:1384322, ECO:0000269 PubMed:3029074, ECO:0000269 PubMed:8931706}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PNP

Human Genome Epidemiology (HuGE) Navigator
PNP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNP
genes like me logo Genes that share disorders with PNP: view

No data available for Genatlas for PNP Gene

Publications for PNP Gene

  1. Genetic variation in genes associated with arsenic metabolism: glutathione S-transferase omega 1-1 and purine nucleoside phosphorylase polymorphisms in European and indigenous Americans. (PMID: 12928150) Yu L. … Klimecki W.T. (Environ. Health Perspect. 2003) 3 4 22 65
  2. 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. (PMID: 8931706) Pannicke U. … Schwarz K. (Hum. Genet. 1996) 3 4 22 65
  3. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency. (PMID: 1384322) Aust M.R. … Markert M.L. (Am. J. Hum. Genet. 1992) 3 4 22 65
  4. Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2-A resolution. (PMID: 2104852) Ealick S.E. … Bugg C.E. (J. Biol. Chem. 1990) 3 4 22 65
  5. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization. (PMID: 6087295) Williams S.R. … Martin D.W. Jr. (Nucleic Acids Res. 1984) 2 3 4 65

Products for PNP Gene

Sources for PNP Gene

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