NGLY1 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | NGLY1 |
| Official Name | N-glycanase 1 [Source:HGNC Symbol;Acc:HGNC:17646] |
| Ensembl ID | ENSG00000151092 |
| Bio databases IDs | |
| Aliases | N-glycanase 1, peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase, peptide:N-glycanase |
| Synonyms | 1110002C09Rik, CDDG, CDG1V, FLJ12409, LOC100909559, N-glycanase 1, PNG-1, PNGase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NGLY1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transglutaminase-like superfamily
- PUbS domain
- Transglutaminase/protease-like homologues
- peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase
- PNGase C-terminal domain, mannose-binding module PAW
- M-domain
- PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
- central domain
- PUB domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital disorder of deglycosylation-1
- hereditary disorder
- developmental delay
- multifocal epileptic activity
- liver disease
- abnormal involuntary movement
- dry eye
- motor dysfunction
- infection by HIV-1
role in cell
- fragmentation in
- degradation in
- expression in
- fragmentation
- function
- mitophagy in
- processing in
- deglycosylation in
- endoplasmic reticulum-associated degradation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- microsomal fraction
- Nucleus
- Endoplasmic Reticulum
- cytosol
- rough endoplasmic reticulum fraction
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NGLY1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycoprotein catabolic process
- protein deglycosylation
- protein folding
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity