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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IGI IGI: Inferred from genetic interaction	28826503	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15358861	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycoprotein catabolic process	IDA IDA: Inferred from direct assay	15358861	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15358861	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

NGLY1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NGLY1	Q96IV0	BICRAL	Homo sapiens	Q6AI39	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	BICRAL	Homo sapiens	Q6AI39	Y2H Array	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0-2	Validated Y2H	25416956
Intra	NGLY1	Q96IV0	TCF12	Homo sapiens	Q99081-3	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	TCF12	Homo sapiens	Q99081-3	Y2H Array	32296183
Intra	NGLY1	Q96IV0	TCF12	Homo sapiens	Q99081-3	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	GUCD1	Homo sapiens	Q96NT3-2	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Array	32296183
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Array	25416956
Intra	NGLY1	Q96IV0	UBXN2B	Homo sapiens	Q14CS0	Y2H Array	31515488
Intra	NGLY1	Q96IV0	UBXN2B	Homo sapiens	Q14CS0	Validated Y2H	25416956
Intra	NGLY1	Q96IV0	UBXN2B	Homo sapiens	Q14CS0	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Validated Y2H	25416956
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Y2H Array	32296183
Intra	NGLY1	Q96IV0	VMAC	Homo sapiens	Q2NL98	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	VMAC	Homo sapiens	Q2NL98	Y2H Array	32296183
Intra	NGLY1	Q96IV0	PAX5	Homo sapiens	Q02548	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	PAX5	Homo sapiens	Q02548	Y2H Array	32296183
Intra	NGLY1	Q96IV0	NPAS2	Homo sapiens	Q99743	Y2H Array	32296183
Intra	NGLY1	Q96IV0	NPAS2	Homo sapiens	Q99743	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	NPAS2	Homo sapiens	Q99743	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Array	32296183
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Array	31515488
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	NGLY1	Q96IV0	GUCD1	Homo sapiens	Q96NT3	Y2H Array	25416956
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Pull Down	22119785
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Array	25416956
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Array	32296183
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

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	Pre-designed Sets	/	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

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