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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: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 |
|---|---|---|---|
| 173028 | WB:WBGene00010160 | ||
| 35527 | FB:FBgn0033050 | ||
| 100181653 | CIOIN07957 | ||
| 102345970 | LATCH05902 | ||
| 553627 | ZFIN:ZDB-GENE-050522-535 | DANRE16239 | |
| 108272784 | ICTPU03916 | ||
| 113586492 | ELEEL37564 | ||
| 100380716 | SALSA36108 | ||
| 115175685 | SALTR04955 | ||
| 115535795 | GADMO35643 |
