NGLY1
N-glycanase 1
Gene Information Card
| Symbol | NGLY1 |
|---|---|
| Full Name | N-glycanase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.2 |
| NCBI Gene ID | 55768 ncbi.nlm.nih.gov/gene/55768 |
| Ensembl ID | ENSG00000151092 |
| UniProt ID | Q96IV0 |
| OMIM ID | 610661 |
| HGNC ID | 17646 |
| Aliases | PNGase, PNG-1, FLJ11011 |
Description
NGLY1 encodes N-glycanase 1, an enzyme that cleaves N-linked glycans from glycoproteins in the endoplasmic reticulum-associated degradation (ERAD) pathway. It is critical for protein quality control and deglycosylation of misfolded glycoproteins. Loss-of-function mutations cause NGLY1 deficiency, a rare autosomal recessive disorder characterized by developmental delay, movement disorder, and liver dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| NGLY1 deficiency (congenital disorder of deglycosylation) | Loss-of-function mutations impair deglycosylation of misfolded glycoproteins, leading to accumulation of toxic substrates in the ER | Multiple case reports and functional studies (OMIM #615273) |
| Autism spectrum disorder (ASD) | NGLY1 variants may contribute to neurodevelopmental phenotypes via impaired ERAD | Association studies in NGLY1-deficient patients |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Liver | 12.5 | High |
| Kidney | 9.1 | Medium |
| Heart | 6.8 | Medium |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | High expression |
| HeLa | 11.2 | Moderate expression |
| SH-SY5Y | 7.9 | Medium expression |
| HepG2 | 13.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1201A>G (p.Thr401Ala) | Missense | Rare | Reduced enzymatic activity |
| c.1890delC (p.Phe630Leufs*2) | Frameshift | Rare | Loss of function, premature truncation |
| c.880C>T (p.Arg294*) | Nonsense | Rare | Loss of function, nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Most NGLY1 mutations are loss-of-function, leading to reduced or absent N-glycanase activity and impaired ERAD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity | • glycoprotein deglycosylation |
| • endoplasmic reticulum-associated degradation (ERAD) pathway | • protein deglycosylation |
| • cytoplasm | • endoplasmic reticulum |
Pathways
• ERAD pathway (Reactome: R-HSA-9016234)
• Deglycosylation of misfolded glycoproteins (UniProt)
Protein Summary
N-glycanase 1 (NGLY1) is a 654-amino-acid cytoplasmic enzyme that removes N-linked glycans from glycoproteins. It contains a transglutaminase-like catalytic domain and is essential for the ERAD pathway. The enzyme acts after retrotranslocation of misfolded glycoproteins from the ER to the cytoplasm. Deficiency leads to accumulation of glycoproteins and cellular stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NGLY1 Knockout HEK293 Cell Line | EDJ-KQ14417 | Human | 55768 | Details Get a Quote |
| NGLY1 Knockout A-549 Cell Line | EDJ-KQ44616 | Human | 55768 | Details Get a Quote |
| NGLY1 Knockout HeLa Cell Line | EDJ-KQ44618 | Human | 55768 | Details Get a Quote |
| NGLY1 Knockout HCT 116 Cell Line | EDJ-KQ43359 | Human | 55768 | Details Get a Quote |
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