2. Gene
  3. NGLY1 - N-glycanase 1 Gene

NGLY1 - N-glycanase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PUB: PUB domain (24 - 103)

Transglut_core

Transglut_core: Transglutaminase-like superfamily (269 - 354)

PAW

PAW: PNGase C-terminal domain, mannose-binding module PAW (497 - 556)

  • 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 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