Aliases for NGLY1 Gene
External Ids for NGLY1 Gene
Previous GeneCards Identifiers for NGLY1 Gene
This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
GeneCards Summary for NGLY1 Gene
NGLY1 (N-Glycanase 1) is a Protein Coding gene. Diseases associated with NGLY1 include alacrimia-choreoathetosis-liver dysfunction syndrome and congenital disorder of deglycosylation. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include damaged DNA binding and peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity.
UniProtKB/Swiss-Prot for NGLY1 Gene
Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins.