|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:PNGase
gptkb:peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine_amidase
PNG1
|
|
gptkbp:associatedWith
|
gptkb:NGLY1_deficiency
|
|
gptkbp:biologicalProcess
|
amidase activity
glycan binding
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
cytosol
|
|
gptkbp:discoveredIn
|
2002
|
|
gptkbp:encodes
|
gptkb:N-glycanase_1
|
|
gptkbp:Entrez_Gene_ID
|
55768
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
Suzuki et al.
|
|
gptkbp:function
|
removes N-linked glycans from glycoproteins
|
|
gptkbp:gene
|
gptkb:NGLY1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
17646
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NGLY1 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
654 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p24.2
|
|
gptkbp:modelOrganismFor
|
gptkb:mouse
gptkb:zebrafish
gptkb:Drosophila_melanogaster
|
|
gptkbp:mutationAssociatedWith
|
gptkb:congenital_disorder_of_deglycosylation
loss-of-function
|
|
gptkbp:OMIM
|
610661
|
|
gptkbp:orthologInMouse
|
gptkb:Ngly1
|
|
gptkbp:pathway
|
gptkb:ER-associated_degradation_(ERAD)
protein quality control
|
|
gptkbp:product
|
peptide:N-glycanase
|
|
gptkbp:significance
|
mutations cause multisystem disorder
|
|
gptkbp:UniProtID
|
gptkb:Q96IV0
|
|
gptkbp:bfsParent
|
gptkb:N-glycanase_1
gptkb:NGLY1_deficiency
|
|
gptkbp:bfsLayer
|
7
|