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PNP purine nucleoside phosphorylase [ Homo sapiens (human) ]

Gene ID: 4860, updated on 9-Dec-2018

Summary

Official Symbol
PNPprovided by HGNC
Official Full Name
purine nucleoside phosphorylaseprovided by HGNC
Primary source
HGNC:HGNC:7892
See related
Ensembl:ENSG00000198805 MIM:164050
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NP; PUNP; PRO1837
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]
Expression
Broad expression in bone marrow (RPKM 94.2), kidney (RPKM 44.4) and 18 other tissues See more
Orthologs

Genomic context

See PNP in Genome Data Viewer
Location:
14q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (20469379..20478006)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20937538..20946165)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OSGEP/APEX1 bi-directional promoter region Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 1 Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 Neighboring gene ribonuclease A family member 10 (inactive) Neighboring gene pentatricopeptide repeat domain 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Purine-nucleoside phosphorylase deficiency
MedGen: C0268125 OMIM: 613179 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916

Gene Ontology Provided by GOA

Function Evidence Code Pubs
drug binding IDA
Inferred from Direct Assay
more info
PubMed 
nucleoside binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion binding IDA
Inferred from Direct Assay
more info
PubMed 
purine nucleobase binding IDA
Inferred from Direct Assay
more info
PubMed 
purine-nucleoside phosphorylase activity EXP
Inferred from Experiment
more info
PubMed 
purine-nucleoside phosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
purine-nucleoside phosphorylase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
NAD biosynthesis via nicotinamide riboside salvage pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
inosine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-2 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
nicotinamide riboside catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
nucleobase-containing compound metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of alpha-beta T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
purine nucleotide catabolic process TAS
Traceable Author Statement
more info
 
purine-containing compound salvage TAS
Traceable Author Statement
more info
 
response to drug IDA
Inferred from Direct Assay
more info
PubMed 
response to drug IMP
Inferred from Mutant Phenotype
more info
PubMed 
urate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
purine nucleoside phosphorylase
Names
HEL-S-156an
epididymis secretory sperm binding protein Li 156an
inosine phosphorylase
inosine-guanosine phosphorylase
purine-nucleoside:orthophosphate ribosyltransferase
NP_000261.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009631.1 RefSeqGene

    Range
    4997..13624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_91

mRNA and Protein(s)

  1. NM_000270.3NP_000261.2  purine nucleoside phosphorylase

    See identical proteins and their annotated locations for NP_000261.2

    Status: REVIEWED

    Source sequence(s)
    AL355075, BC106074, BM193354, BU622706
    Consensus CDS
    CCDS9552.1
    UniProtKB/Swiss-Prot
    P00491
    UniProtKB/TrEMBL
    V9HWH6
    Related
    ENSP00000354532.5, ENST00000361505.9
    Conserved Domains (1) summary
    TIGR01700
    Location:26280
    PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    20469379..20478006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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