NGLY1

NGLY1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2CCQ, 2CM0
Identifiers
Aliases	NGLY1, CDG1V, PNG1, PNGase, CDDG, N-glycanase 1, PNG-1
External IDs	OMIM: 610661; MGI: 1913276; HomoloGene: 10117; GeneCards: NGLY1; OMA:NGLY1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	25,790,039 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	6,220,483 bp
RNA expression pattern
	Top expressed in
	sperm; ; right testis; ; left testis; ; secondary oocyte; ; bone marrow cells; ; cartilage tissue; ; biceps brachii; ; tendon of biceps brachii; ; gastrocnemius muscle; ; glutes;
	Top expressed in
	interventricular septum; ; seminiferous tubule; ; parotid gland; ; spermatid; ; seminal vesicula; ; lacrimal gland; ; vastus lateralis muscle; ; triceps brachii muscle; ; temporal muscle; ; medial head of gastrocnemius muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; hydrolase activity; metal ion binding; peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity;
Cellular component	cytoplasm; nucleus; cytosol;
Biological process	glycoprotein catabolic process; protein quality control for misfolded or incompletely synthesized proteins; protein folding; protein deglycosylation;
	Sources:Amigo / QuickGO
Orthologs
	55768
	59007
	ENSG00000151092
	ENSMUSG00000021785
	Q96IV0
	Q9JI78
	NM_001145293; NM_001145294; NM_001145295; NM_018297; NM_025105
	NM_021504; NM_001362432; NM_001362433
	NP_001138765; NP_001138766; NP_001138767; NP_060767
	NP_067479; NP_001349361; NP_001349362
	Wikidata
View/Edit Human	View/Edit Mouse

PNGase also known as N-glycanase 1 (EC 3.5.1.52) or peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase is an enzyme that in humans is encoded by the NGLY1 gene. PNGase is a de-N-glycosylating enzyme that removes N-linked or asparagine-linked glycans (N-glycans) from glycoproteins.^[5]^[6]^[7] More specifically, NGLY1 catalyzes the hydrolysis of the amide bond between the innermost N-acetylglucosamine (GlcNAc) and an Asn residue on an N-glycoprotein, generating a de-N-glycosylated protein, in which the N-glycoylated Asn residue is converted to asp, and a 1-amino-GlcNAc-containing free oligosaccharide. Ammonia is then spontaneously released from the 1-amino GlcNAc at physiological pH (<8), giving rise to a free oligosaccharide with an N,N’-diacetylchitobiose structure at the reducing end.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000151092 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021785 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hirayama H, Hosomi A, Suzuki T (May 2015). "Physiological and molecular functions of the cytosolic peptide:N-glycanase". Seminars in Cell & Developmental Biology. 41: 110–120. doi:10.1016/j.semcdb.2014.11.009. PMID 25475175.
^ Suzuki T (January 2015). "The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder". Journal of Biochemistry. 157 (1): 23–34. doi:10.1093/jb/mvu068. PMID 25398991.
^ Suzuki T, Huang C, Fujihira H (February 2016). "The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions". Gene. 577 (1): 1–7. doi:10.1016/j.gene.2015.11.021. PMC 4691572. PMID 26611529.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000151092 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021785 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Hirayama H, Hosomi A, Suzuki T (May 2015). "Physiological and molecular functions of the cytosolic peptide:N-glycanase". Seminars in Cell & Developmental Biology. 41: 110–120. doi:10.1016/j.semcdb.2014.11.009. PMID 25475175.

[6] Suzuki T (January 2015). "The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder". Journal of Biochemistry. 157 (1): 23–34. doi:10.1093/jb/mvu068. PMID 25398991.

[7] Suzuki T, Huang C, Fujihira H (February 2016). "The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions". Gene. 577 (1): 1–7. doi:10.1016/j.gene.2015.11.021. PMC 4691572. PMID 26611529.

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