Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:PNGase
PNG1 peptide:N-glycanase |
| gptkbp:associatedWith |
gptkb:NGLY1_deficiency
|
| gptkbp:encodes |
gptkb:N-glycanase_1
|
| gptkbp:Entrez_Gene_ID |
ENSG00000151092
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
removes N-linked glycans from glycoproteins
|
| gptkbp:HGNC_ID |
17646
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ngly1
|
| gptkbp:locatedOnChromosome |
3
|
| gptkbp:location |
3p24.2
|
| gptkbp:mutationAssociatedWith |
gptkb:congenital_disorder_of_deglycosylation
|
| gptkbp:OMIM |
610661
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
Pngl (Drosophila melanogaster)
|
| gptkbp:UniProtID |
gptkb:Q96IV0
|
| gptkbp:bfsParent |
gptkb:NGLY1
|
| gptkbp:bfsLayer |
7
|