Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55768
Gene name Gene Name - the full gene name approved by the HGNC.	N-glycanase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NGLY1
Synonyms (NCBI Gene) Gene synonyms aliases	CDDG, CDG1V, PNG-1, PNG1, PNGase
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p24.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded enzyme may play a role in the proteasome-media

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SNP ID	Visualize variation	Clinical significance	Consequence
rs146140738	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs200561967	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201337954	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs201791209	C>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs528583612	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, stop gained
rs532007026	C>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs587776982	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs587777265	->C	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs587777266	TCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs745814294	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs755009745	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs757712371	T>C,G	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant
rs761634625	GCT>-	Likely-pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs765211108	ATTG>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767388144	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs768131676	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs771354261	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs772184143	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs772994617	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs907852687	G>C,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs992161646	C>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1060499777	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401728	C>G,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401729	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135401730	A>-	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1135401731	C>A	Pathogenic	Intron variant
rs1261363915	C>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs1375323331	TCGATTGCTGAACTGGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1470912253	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1553649843	T>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553652151	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553666033	C>-	Pathogenic	Upstream transcript variant, non coding transcript variant, intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1575612023	ACAAAGGT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575614945	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained, non coding transcript variant
rs1575616394	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575622147	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575650389	C>T	Likely-pathogenic	Splice acceptor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT045306	hsa-miR-186-5p	CLASH	23622248
MIRT1184201	hsa-miR-383	CLIP-seq
MIRT1184202	hsa-miR-4266	CLIP-seq
MIRT1184203	hsa-miR-4735-5p	CLIP-seq
MIRT1184204	hsa-miR-4772-5p	CLIP-seq
MIRT1184205	hsa-miR-548c-3p	CLIP-seq
MIRT1184206	hsa-miR-124	CLIP-seq
MIRT1184207	hsa-miR-3714	CLIP-seq
MIRT1184208	hsa-miR-3910	CLIP-seq
MIRT1184209	hsa-miR-506	CLIP-seq
MIRT1184210	hsa-miR-579	CLIP-seq
MIRT2282620	hsa-miR-1183	CLIP-seq
MIRT2282621	hsa-miR-1293	CLIP-seq
MIRT2282622	hsa-miR-142-5p	CLIP-seq
MIRT2282623	hsa-miR-23a	CLIP-seq
MIRT2282624	hsa-miR-23b	CLIP-seq
MIRT2282625	hsa-miR-23c	CLIP-seq
MIRT2282626	hsa-miR-3146	CLIP-seq
MIRT2282627	hsa-miR-340	CLIP-seq
MIRT2282628	hsa-miR-433	CLIP-seq
MIRT2282629	hsa-miR-4483	CLIP-seq
MIRT2282630	hsa-miR-4666-5p	CLIP-seq
MIRT2282631	hsa-miR-4775	CLIP-seq
MIRT2282632	hsa-miR-4795-3p	CLIP-seq
MIRT2282633	hsa-miR-590-3p	CLIP-seq
MIRT2282634	hsa-miR-621	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IBA
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IEA
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IGI	28826503
GO:0000224	Function	Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	TAS
GO:0005515	Function	Protein binding	IPI	15358861, 22119785, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IDA	15358861
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006457	Process	Protein folding	TAS
GO:0006516	Process	Glycoprotein catabolic process	IBA
GO:0006516	Process	Glycoprotein catabolic process	IDA	15358861
GO:0006516	Process	Glycoprotein catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610661	17646	ENSG00000151092

Protein

UniProt ID

Q96IV0

Protein name

Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (PNGase) (hPNGase) (EC 3.5.1.52) (N-glycanase 1) (Peptide:N-glycanase)

Protein function

Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting

PDB

2CCQ , 2CM0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09409	PUB	25 → 103	PUB domain	Domain
PF01841	Transglut_core	258 → 354	Transglutaminase-like superfamily	Family
PF04721	PAW	457 → 651	PNGase C-terminal domain, mannose-binding module PAW	Domain

Sequence

MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILRNPNDEKYRSIRIGNTA
FSTRLLPVRGAVECLFEMGFEEGETHLIFPKKASVEQLQKIRDLIAIERSSRLDGSNKSH
KVKSSQQPAASTQLPTTPSSNPSGLNQHTRNRQGQSSDPPSASTVAADSAILEVLQSNIQ
HVLVYENPALQEKALACIPVQELKRKSQEKLSRARKLDKGINISDEDFLLLELLHWFKEE
FFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAKEVEDHYCDACQFSNRFPRYNNPEK
LLETRCGRCGEWANCFTLCCRAVGFEARYVWDYTDHVWTEVYSPSQQRWLHCDACEDVCD
KPLLYEIGWGKKLSYVIAFSKDEVVDVTWRYSCKHEEVIARRTKVKEALLRDTINGLNKQ
RQLFLSENRRKELLQRIIVELVEFISPKTPKPGELGGRISGSVAWRVARGEMGLQRKETL
FIPCENEKISKQLHLCYNIVKDRYVRVSNNNQTISGWENGVWKMESIFRKVETDWHMVYL
ARKEGSSFAYISWKFECGSVGLKVDSISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSL
HSYADFSGATEVILEAELSRGDGDVAWQHTQLFRQSLNDHEENCLEIIIKFSDL

Sequence length

654

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		N-glycan trimming in the ER and Calnexin/Calreticulin cycle

NGLY1 (N-glycanase 1)