Purine nucleoside phosphorylase deficiency

Gene Information

Names

HUGO name: NP

Alias(es):

  • PNP
  • nucleoside phosphorylase
  • Purine nucleoside phosphorylase
  • Inosine phosphorylase

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Catalytic activity:

Purine nucleoside + phosphate = purine + alpha-d-ribose 1-phosphate

Subunit:

Homotrimer

Structures (PDB)

1ULA Application of crystallographic and modeling methods in the design of purine nucleoside phosphorylase inhibitors.
1ULB Application of crystallographic and modeling methods in the design of purine nucleoside phosphorylase inhibitors.

Expression

Expression pattern for human

Tissue Expression (%) Clones
umbilical cord vein, endothelium 25.22 2:346
omentum, greater omentum 15.75 1:277
skin, epithelium 12.43 1:351
fibrosarcoma 4.67 2:1867
germ cell, yolk sac 3.86 1:1129
pool, liver+spleen 1.99 28:61327
gall bladder 1.79 1:2435
whole blood 1.78 1:2445
stomach 1.70 43:110283
parathyroid 1.53 6:17083

Animal models

Mouse

FlyBase

C. elegans