Human Gene PNP (uc010ahm.2)
  Description: Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.
RefSeq Summary (NM_000270): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr14:20,937,538-20,941,359 Size: 3,822 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr14:20,937,684-20,940,728 Size: 3,045 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:20,937,538-20,941,359)mRNA (may differ from genome)Protein (90 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCLynxMalacardsMGIPubMedUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: G3V2H3_HUMAN
DESCRIPTION: SubName: Full=Purine nucleoside phosphorylase; Flags: Fragment;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PNP
Diseases sorted by gene-association score: immunodeficiency due to purine nucleoside phosphorylase deficiency* (1668), adenosine deaminase deficiency (20), lesch-nyhan syndrome (18), exhibitionism (16), paraphilia disorder (16), pedophilia (11), internal hordeolum (11), hordeolum (9), meibomian cyst (9), specific bursitis often of occupational origin (8), thiopurines, poor metabolism of, 1 (8), olecranon bursitis (7), delusional disorder (6), hemometra (6), immune defect due to absence of thymus (6), molybdenum cofactor deficiency (6), purine-pyrimidine metabolic disorder (5), miller-dieker lissencephaly syndrome (5), t cell deficiency (5), combined t cell and b cell immunodeficiency (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.15 RPKM in Kidney - Cortex
Total median expression: 236.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.40146-0.352 Picture PostScript Text
3' UTR -173.94631-0.276 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001369 - PNP/MTAP

SCOP Domains:
53167 - Purine and uridine phosphorylases

ModBase Predicted Comparative 3D Structure on G3V2H3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004731 purine-nucleoside phosphorylase activity

Biological Process:
GO:0006139 nucleobase-containing compound metabolic process
GO:0009116 nucleoside metabolic process


-  Descriptions from all associated GenBank mRNAs
  LF384985 - JP 2014500723-A/192488: Polycomb-Associated Non-Coding RNAs.
BC106074 - Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:117396 IMAGE:3859664), complete cds.
EU794649 - Homo sapiens epididymis secretory sperm binding protein Li 156an (HEL-S-156an) mRNA, complete cds.
AK307364 - Homo sapiens cDNA, FLJ97312.
AK307340 - Homo sapiens cDNA, FLJ97288.
AK313490 - Homo sapiens cDNA, FLJ94043, Homo sapiens nucleoside phosphorylase (NP), mRNA.
X00737 - Human mRNA for purine nucleoside phosphorylase (PNP; EC 2.4.2.1).
AK098544 - Homo sapiens cDNA FLJ25678 fis, clone TST04067, highly similar to PURINE NUCLEOSIDE PHOSPHORYLASE (EC 2.4.2.1).
BC104206 - Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:125915 IMAGE:40031416), complete cds.
BC104207 - Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:125916 IMAGE:40031417), complete cds.
KJ891711 - Synthetic construct Homo sapiens clone ccsbBroadEn_01105 PNP gene, encodes complete protein.
KR711540 - Synthetic construct Homo sapiens clone CCSBHm_00025883 PNP (PNP) mRNA, encodes complete protein.
KR711541 - Synthetic construct Homo sapiens clone CCSBHm_00025886 PNP (PNP) mRNA, encodes complete protein.
KR711542 - Synthetic construct Homo sapiens clone CCSBHm_00025889 PNP (PNP) mRNA, encodes complete protein.
KR711543 - Synthetic construct Homo sapiens clone CCSBHm_00025897 PNP (PNP) mRNA, encodes complete protein.
AB591016 - Synthetic construct DNA, clone: pFN21AE1781, Homo sapiens NP gene for purine nucleoside phosphorylase, without stop codon, in Flexi system.
CR407607 - Homo sapiens full open reading frame cDNA clone RZPDo834A062D for gene NP, nucleoside phosphorylase complete cds, without stopcodon.
LF334343 - JP 2014500723-A/141846: Polycomb-Associated Non-Coding RNAs.
LF334351 - JP 2014500723-A/141854: Polycomb-Associated Non-Coding RNAs.
MA620562 - JP 2018138019-A/192488: Polycomb-Associated Non-Coding RNAs.
MA569920 - JP 2018138019-A/141846: Polycomb-Associated Non-Coding RNAs.
MA569928 - JP 2018138019-A/141854: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism
hsa00760 - Nicotinate and nicotinamide metabolism
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: AK307364, G3V2H3, G3V2H3_HUMAN
UCSC ID: uc010ahm.2
RefSeq Accession: NM_000270
Protein: G3V2H3

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK307364.1
exon count: 2CDS single in 3' UTR: no RNA size: 1023
ORF size: 273CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 668.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 723# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.