• Gene id: 55768

Gene Summary

• Gene Symbol: NGLY1   Gene   UCSC   Ensembl
• Aliases: CDDG, CDG1V, PNG-1, PNG1, PNGase
• Gene name: N-glycanase 1
• Alternate names: peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase, hPNGase, peptide:N-glycanase,
• Gene location: 3p24.2 (25790038: 25718943)     Exons: 16     NC_000003.12
• Gene summary(Entrez): 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-media
• OMIM: 610661

Protein Summary

• Protein general information: Q96IV0  
  • Name: Peptide N(4) (N acetyl beta glucosaminyl)asparagine amidase (PNGase) (hPNGase) (EC 3.5.1.52) (N glycanase 1) (Peptide:N glycanase)
  • Length: 654  
  • Mass: 74390
• Sequence:

  MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILRNPNDEKYRSIRIGNTAFSTRLLPVRGAVECL
  FEMGFEEGETHLIFPKKASVEQLQKIRDLIAIERSSRLDGSNKSHKVKSSQQPAASTQLPTTPSSNPSGLNQHTR
  NRQGQSSDPPSASTVAADSAILEVLQSNIQHVLVYENPALQEKALACIPVQELKRKSQEKLSRARKLDKGINISD
  EDFLLLELLHWFKEEFFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAKEVEDHYCDACQFSNRFPRYNNPEK
  LLETRCGRCGEWANCFTLCCRAVGFEARYVWDYTDHVWTEVYSPSQQRWLHCDACEDVCDKPLLYEIGWGKKLSY
  VIAFSKDEVVDVTWRYSCKHEEVIARRTKVKEALLRDTINGLNKQRQLFLSENRRKELLQRIIVELVEFISPKTP
  KPGELGGRISGSVAWRVARGEMGLQRKETLFIPCENEKISKQLHLCYNIVKDRYVRVSNNNQTISGWENGVWKME
  SIFRKVETDWHMVYLARKEGSSFAYISWKFECGSVGLKVDSISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSL
  HSYADFSGATEVILEAELSRGDGDVAWQHTQLFRQSLNDHEENCLEIIIKFSDL

• Structural information:
  • Protein Domains: (30..9-)
    (/note="PUB-)
    (454..65-)
    (/note="PAW-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00731"-)
  • Interpro: IPR008979  IPR038765  IPR038680  IPR006588  IPR036339   IPR018997  IPR002931  
  • Prosite: PS51398
  • PDB: 2CCQ 2CM0
  • PDBsum: 2CCQ 2CM0
  • STRING: ENSP00000280700
• Other Databases: GeneCards:  NGLY1  Malacards:  NGLY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006517	protein deglycosylation	IBA	biological process
GO:0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IBA	biological process
GO:0006516	glycoprotein catabolic process	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006516	glycoprotein catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IEA	molecular function
GO:0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IGI	molecular function
GO:0006517	protein deglycosylation	IDA	biological process
GO:0006517	protein deglycosylation	IGI	biological process
GO:0000224	peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006516	glycoprotein catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006516	glycoprotein catabolic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital disorders of glycosylation type I	KEGG:H00118
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray