The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.
Peptide:N-glycanase (PNGase) is a de-N-glycosylating enzyme that cleaves intact N-glycans from glycoproteins/glycopeptides. The activity of the cytoplasmic PNGase in several mammalian-derived cultured cells was first reported in 1993, and 7 years later, the gene encoding the enzyme was identified in budding yeast. Although the gene-PNG1 in budding yeast and NGLY1/Ngly1 in mammalian cells-appears to be well conserved throughout eukaryotes, the biological significance of this enzyme has remained elusive until recently. However, discovery of a human genetic disorder involving the NGLY1 gene clearly indicates that this enzyme plays a critical role in human biology. This review summarizes the research history of cytoplasmic PNGase. The importance of curiosity-driven, pure 'basic science' will also be discussed.
Glycometabolome Team, Systems Glycobiology Research Group, RIKEN-Max Planck Joint Research Center for Systems Chemical Biology, RIKEN Global Research Cluster, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan tsuzuki_gm@riken.jp.
Tadashi
T
Suzuki
D003593:Cytoplasm / Q000201:enzymology; D060746:Endoplasmic Reticulum-Associated Degradation / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
D006023:Glycoproteins; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
ERAD; Ngly1; PNGase; basic science; genetic disorder