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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:162 | cancer | |
| DOID:1826 | epilepsy | |
| DOID:1909 | melanoma | |
| DOID:2215 | factor VII deficiency | |
| DOID:2216 | factor V deficiency | |
| DOID:2234 | focal epilepsy | |
| DOID:2236 | congenital afibrinogenemia | |
| DOID:2340 | craniosynostosis | |
| DOID:2451 | protein S deficiency | |
| DOID:2452 | thrombophilia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000194 | Open mouth |
| HP:0000248 | Brachycephaly |
| HP:0000252 | Microcephaly |
| HP:0000275 | Narrow face |
| HP:0000297 | Facial hypotonia |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000350 | Small forehead |
| HP:0000369 | Low-set ears |
| 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 |
|---|---|---|---|
| 100598050 | NOMLE28246 | ||
| 113155469 | ANATE05707 | ||
| 107593604 | SINGR55276 | ||
| 106823874 | EQUAS00308 | ||
| 116817673 | CHEAB19404 | ||
| 105290971 | PTEVA07989 | ||
| 115051057 | ECHNA19451 | ||
| 115409860 | SALFA49747 | ||
| 105810551 | PROCO13420 | ||
| 856009 | SGD:S000006017 |
