Entity Details

Primary name NGLY1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96IV0
EntryNameNGLY1_HUMAN
FullNamePeptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
TaxID9606
Evidenceevidence at protein level
Length654
SequenceStatuscomplete
DateCreated2006-09-05
DateModified2021-06-02

Ontological Relatives

GenesNGLY1

GO terms

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GOName
GO:0000224 peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006457 protein folding
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins
GO:0006516 glycoprotein catabolic process
GO:0006517 protein deglycosylation
GO:0046872 metal ion binding
GO:0071712 ER-associated misfolded protein catabolic process

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR002931 Transglutaminase-likeDomainDomain
IPR006588 Peptide N glycanase, PAW domainDomainDomain
IPR008979 Galactose-binding-like domain superfamilyFamilyHomologous superfamily
IPR018997 PUB domainDomainDomain
IPR036339 PUB-like domain superfamilyFamilyHomologous superfamily
IPR038680 PAW domain superfamilyFamilyHomologous superfamily
IPR038765 Papain-like cysteine peptidase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615273 OMIMCongenital disorder of deglycosylation (CDDG)A multisystem disorder 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 disease is caused by variants affecting the gene represented in this entry.