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PNP purine nucleoside phosphorylase [ Homo sapiens (human) ]

Gene ID: 4860, updated on 23-Oct-2014
Official Symbol
PNPprovided by HGNC
Official Full Name
purine nucleoside phosphorylaseprovided by HGNC
Primary source
HGNC:HGNC:7892
See related
HPRD:01247; 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]
Location:
14q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 APEX nuclease (multifunctional DNA repair enzyme) 1 Neighboring gene transmembrane protein 55B Neighboring gene ribonuclease, RNase A family, 10 (non-active) Neighboring gene pentatricopeptide repeat domain 2 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
 
purine-nucleoside phosphorylase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
purine nucleoside phosphorylase
Names
purine nucleoside phosphorylase
HEL-S-156an
inosine phosphorylase
inosine-guanosine phosphorylase
epididymis secretory sperm binding protein Li 156an
purine-nucleoside:orthophosphate ribosyltransferase
NP_000261.2

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 

    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 proteins identical to NP_000261.2

    Status: REVIEWED

    Source sequence(s)
    AL355075, BC106074, BM193354, BU622706
    Consensus CDS
    CCDS9552.1
    UniProtKB/Swiss-Prot
    P00491
    UniProtKB/TrEMBL
    V9HWH6
    Conserved Domains (2) summary
    COG0005
    Location:12282
    Pnp; Purine nucleoside phosphorylase [Nucleotide transport and metabolism]
    TIGR01700
    Location:26280
    PNPH; purine nucleoside phosphorylase I, inosine and guanosine-specific

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    1059149..1067777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    20938918..20947545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)