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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
N-glycanase 1
Summary
- Gene Symbol
-
- NGLY1
- Aliases
-
- FLJ11005
- PNG-1
- PNG1
- peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
- peptide:N-glycanase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Alternative splicing
- Cytoplasm
- Hydrolase
- Metal-binding
- Phosphoprotein
- Reference proteome
- Zinc
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96IV0 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein deglycosylation | ||
| protein folding |
|
|
| glycoprotein catabolic process |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| metal ion binding | ||
| protein binding | ||
| peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2481 | obsolete infantile epileptic encephalopathy | |
| DOID:2537 | inflammatory and toxic neuropathy | |
| DOID:308 | early myoclonic encephalopathy | |
| DOID:318 | progressive muscular atrophy | |
| DOID:332 | amyotrophic lateral sclerosis | |
| DOID:3535 | Unverricht-Lundborg syndrome | |
| DOID:3755 | antithrombin III deficiency | |
| DOID:3756 | protein C deficiency | |
| DOID:3891 | placental insufficiency | |
| DOID:4766 | embryoma |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003086 | Acromesomelia |
| HP:0003121 | Limb joint contracture |
| HP:0003348 | Hyperalaninemia |
| HP:0003447 | Axonal loss |
| HP:0003448 | Decreased sensory nerve conduction velocity |
| HP:0003535 | 3-Methylglutaconic aciduria |
| HP:0003563 | Decreased LDL cholesterol concentration |
| HP:0003593 | Infantile onset |
| HP:0003785 | Decreased CSF homovanillic acid concentration |
| HP:0003834 | Shoulder dislocation |
| Disease ID | Disease Name |
|---|---|
| ORPHA:404454 |
|
| OMIM:615273 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 109066243 | CYPCA108888 | ||
| 109066324 | CYPCA77760 | ||
| 103734260 | NANGA04428 | ||
| 116443595 | CORMO07643 | ||
| 115619712 | STRHB15959 |
