NGLY1 - N-glycanase 1 Gene

Homo sapiens

Also known as CDDG; PNG1; CDG1V; PNG-1; PNGase

Gene ID: 55768 | Gene type: protein coding

About NGLY1

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:25,718,944-25,790,039 (from NCBI)

This gene has 21 transcripts (splice variants), 215 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 28.0), lymph node (RPKM 11.3) and 25 other tissues.

Summary

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-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

NGLY1 Products(4)

mRNA	Protein	Name
NM_001145293.2	NP_001138765.1	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 2
NM_001145294.2	NP_001138766.1	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 3
NM_001145295.2	NP_001138767.1	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 4
NM_018297.4	NP_060767.2	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 1

NGLY1 Protein Structure

PUB

Transglut_core

PAW

0
200
400
600
654 a.a.

Protein Preferred Names

Protein Names

peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase

hPNGase

Related Diseases

Diseases

Alias

Congenital Disorder Of Deglycosylation 1

Congenital Disorder Of Deglycosylation	CDDG1
Cddg	Congenital Disorder Of Glycosylation, Type Iv, Formerly
Cdg1v, Formerly	Cdg1v
Cdgiv	Congenital Disorder Of Glycosylation 1v
Congenital Disorder Of Glycosylation Type Iv	Deglycosylation, Congenital Disorder Of

Ngly1-Deficiency

Deficiency Of N-Glycanase 1	Ngly1-Cddg
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Ngly1 Deficiency
Congenital Disorder Of Deglycosylation	Congenital Disorder Of Glycosylation Type Iv
Congenital Disorder Of Deglycosylation	Cddg
Congenital Disorder Of Glycosylation Type Iv	Cdg1v

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hypotonia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Autoinflammation, Panniculitis, And Dermatosis Syndrome

Otulipenia	Otulin-Related Autoinflammatory Syndrome
AIPDS	Oras
Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome	Autoinflammation, Panniculitis And Dermatosis Syndrome
Otulin Deficiency

Aspartylglucosaminuria

Aspartylglycosaminuria	Glycosylasparaginase Deficiency
Aspartylglucosaminidase Deficiency	Aga Deficiency
AGU	Aspartylglucosamidase Deficiency
Glycoasparaginase	Aspartylglucosamidase Deficiency
Hyperammonemia, Type Iii

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129225	WRR139		99.71%	Unkown
HY-N9446	H-Asn(glcnac-beta-D)-OH		98.65%	Unkown
HY-RS09279	NGLY1 Human Pre-designed siRNA Set A		/	Unkown
HY-P2064	Lariatin A	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NGLY1	RGD	RGD:1308518
Felis catus	NGLY1	VGNC	VGNC:63795
Bos taurus	NGLY1	VGNC	VGNC:32063
Macaca mulatta	NGLY1	VGNC	VGNC:75200
Mus musculus	NGLY1	MGD	MGI:1913276
Canis familiaris	NGLY1	VGNC	VGNC:43796

Name
Email *

	Sorry, but the email address you supplied was invalid.