InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NGLY1

Summary

InnateDB Protein

IDBP-368249.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NGLY1

Protein Name

N-glycanase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000387430

InnateDB Gene

IDBG-22696 (NGLY1)

Protein Structure

UniProt Annotation

Function

Specifically deglycosylates the denatured form of N- linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl- glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high- mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins. {ECO:0000269PubMed:14749736, ECO:0000269PubMed:15358861}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15358861}.

Disease Associations

Congenital disorder of glycosylation 1V (CDG1V) [MIM:615273]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:22581936, ECO:0000269PubMed:24651605}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	18 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0006516

glycoprotein catabolic process

Cellular Component

GO:0005737

cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR002931 Transglutaminase-like
IPR006567 PUG domain
IPR006588 Peptide N glycanase, PAW domain
IPR008979 Galactose-binding domain-like
IPR018997 PUB domain

PFAM

PF01841
PF04721
PF09409

PRINTS

PIRSF

SMART

SM00460
SM00580
SM00613

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q96IV0