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NGLY1 - N-glycanase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55768

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	References	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	References	Source
involved in glycoprotein catabolic process	IDA IDA: Inferred from direct assay	15358861	GOA

Cellular Component GO Annotation	Evidence	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129225	WRR139	Inhibitor	99.71%	Unkown
HY-N9446	H-Asn(glcnac-beta-D)-OH		98.65%	Unkown
HY-P10135	RES-701-1	Antagonist	/	Unkown
HY-P2064	Lariatin A	Inhibitor	/	Unkown
HY-RS09279	NGLY1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19221	Ngly1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25710	Ngly1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992274	Anti-NGLY1 Antibody		/	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
Others	NGLY1	NCBI