PNP, purine nucleoside phosphorylase

PNP, purine nucleoside phosphorylase

• 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]

• Gene Synonyms (NP, PRO1837, PUNP, purine nucleoside phosphorylase, HEL-S-156an, epididymis secretory sperm binding protein Li 156an, inosine phosphorylase, inosine-guanosine phosphorylase, purine-nucleoside:orthophosphate ribosyltransferase,)
• NCBI Gene ID: 4860
• Species: Homo sapiens (Human)
• UNIPROT ID#>>V9HWH6
  UNIPROT ID#>>P00491
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

purine nucleoside phosphorylase interacts with:

• anterior gradient 2, protein disulphide isomerase family member
  ATP binding cassette subfamily E member 1
  basic leucine zipper transcription factor, ATF-like 3
  coiled-coil domain containing 90B
  damage specific DNA binding protein 1
  deoxyribose-phosphate aldolase
  derlin 1
  DnaJ heat shock protein family (Hsp40) member B11
  ethylmalonyl-CoA decarboxylase 1
  guanine monophosphate synthase
  HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
  ligand dependent nuclear receptor interacting factor 1
  NAD kinase 2, mitochondrial
  neurocalcin delta
  NHL repeat containing 2
  nitric oxide synthase 1 adaptor protein
  nuclear RNA export factor 1
  phosphoserine aminotransferase 1
  proteasome 26S subunit, non-ATPase 5
  protein phosphatase methylesterase 1
  purine nucleoside phosphorylase
  RAB1A, member RAS oncogene family
  RNA binding motif protein 48
  SBDS ribosome maturation factor
  sirtuin 7
  TNFAIP3 interacting protein 2
  trafficking protein particle complex 4
  transcription factor A, mitochondrial
  transcription factor B2, mitochondrial
  transmembrane p24 trafficking protein 10
  transmembrane protein 177
  tumor protein p53
  ubiquitin C-terminal hydrolase L5
  zinc fingers and homeoboxes 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.