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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:0050562 | West syndrome | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050848 | obstructive sleep apnea | |
| DOID:0060216 | Cogan syndrome | |
| DOID:0060249 | scoliosis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060728 | NGLY1-deficiency | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002171 | Gliosis |
| HP:0002187 | Intellectual disability, profound |
| HP:0002188 | Delayed CNS myelination |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002240 | Hepatomegaly |
| HP:0002305 | Athetosis |
| HP:0002345 | Action tremor |
| HP:0002353 | EEG abnormality |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| 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 |
|---|---|---|---|
| 101157466 | ORYLA01996 | ||
| 100703202 | ORENI41690 | ||
| 733299 | Xenbase:XB-GENE-963944 | ||
| 108718927 | Xenbase:XB-GENE-17334231 | ||
| 101954099 | CHRPI33210 | ||
| 113441250 | PSETE13289 | ||
| 103812936 | SERCA05538 | ||
| 100075786 | ORNAN25925 | ||
| 100930637 | SARHA11181 | ||
| 100397719 | CALJA14896 |
