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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:0011954 | Nodular regenerative hyperplasia of liver |
| HP:0012069 | Keratan sulfate excretion in urine |
| HP:0012070 | Chondroitin sulfate excretion in urine |
| HP:0012153 | Hypotriglyceridemia |
| HP:0012340 | Decreased resting energy expenditure |
| HP:0012447 | Abnormal myelination |
| HP:0012448 | Delayed myelination |
| HP:0012450 | Chronic constipation |
| HP:0012469 | Infantile spasms |
| HP:0012520 | Dilation of Virchow-Robin spaces |
| 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 |
