Property Summary

NCBI Gene PubMed Count 18
PubMed Score 73.16
PubTator Score 139.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.226 5.0e-04
lung cancer 1.100 8.2e-03
ovarian cancer -1.700 1.7e-07
dermatomyositis 1.100 5.1e-03

 MGI Phenotype (1)

Protein-protein Interaction (6)

Gene RIF (11)

PMID Text
25900930 The patients with NGLY1 deficiency show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima.
25398991 This review summarizes the research history of cytoplasmic PNGase.
25220016 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
24651605 Data indicate that N-glycanase 1 (NGLY1) deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease.
22575648 PNGase-PUB serves not only as p97-binding module but also as a possible activator of HR23 in endoplasmic reticulum-associated degradation mechanisms.
22190034 HIV-1 gp41 is identified to have a physical interaction with N-glycanase 1 (NGLY1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20668520 As the generation of the bulk of fOS is unaffected by co-down regulation of Ngly1p and Engase1p, alternative quantitatively important mechanisms must underlie the liberation of these fOS from either LLO or glycoproteins during protein N-glycosylation.
18187620 Knockdown of N-glycanase 1 (NGLY1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
17015730 generation of an HLA-A*0201-associated epitope from tyrosinase with deamidation of Asn to Asp is dependent on glycosylation in the endoplasmic reticulum (ER), and subsequent deglycosylation by peptide-N-glycanase in the cytosol
16807242 the PUB domain functions as a p97 binding module in human peptide N-glycanase
10831608 Describes the function of Yeast PNG1 and identifies similar proteins in mouse, human, D. melanogaster, C. elegans, and S. pombe.

AA Sequence

MAAAALGSSSGSASPAVAELCQNTPETFLEASKLLLTYADNILRNPNDEKYRSIRIGNTAFSTRLLPVRG      1 - 70
AVECLFEMGFEEGETHLIFPKKASVEQLQKIRDLIAIERSSRLDGSNKSHKVKSSQQPAASTQLPTTPSS     71 - 140
NPSGLNQHTRNRQGQSSDPPSASTVAADSAILEVLQSNIQHVLVYENPALQEKALACIPVQELKRKSQEK    141 - 210
LSRARKLDKGINISDEDFLLLELLHWFKEEFFHWVNNVLCSKCGGQTRSRDRSLLPSDDELKWGAKEVED    211 - 280
HYCDACQFSNRFPRYNNPEKLLETRCGRCGEWANCFTLCCRAVGFEARYVWDYTDHVWTEVYSPSQQRWL    281 - 350
HCDACEDVCDKPLLYEIGWGKKLSYVIAFSKDEVVDVTWRYSCKHEEVIARRTKVKEALLRDTINGLNKQ    351 - 420
RQLFLSENRRKELLQRIIVELVEFISPKTPKPGELGGRISGSVAWRVARGEMGLQRKETLFIPCENEKIS    421 - 490
KQLHLCYNIVKDRYVRVSNNNQTISGWENGVWKMESIFRKVETDWHMVYLARKEGSSFAYISWKFECGSV    491 - 560
GLKVDSISIRTSSQTFQTGTVEWKLRSDTAQVELTGDNSLHSYADFSGATEVILEAELSRGDGDVAWQHT    561 - 630
QLFRQSLNDHEENCLEIIIKFSDL                                                  631 - 654
//

Text Mined References (22)

PMID Year Title
25900930 2015 A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
25416956 2014 A proteome-scale map of the human interactome network.
25398991 2015 The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.
25220016 2015 NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
24651605 2014 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.
22575648 2012 NMR characterization of the interaction between the PUB domain of peptide:N-glycanase and ubiquitin-like domain of HR23.
20668520 2010 Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
17015730 2006 Processing of a class I-restricted epitope from tyrosinase requires peptide N-glycanase and the cooperative action of endoplasmic reticulum aminopeptidase 1 and cytosolic proteases.
16807242 2006 The PUB domain functions as a p97 binding module in human peptide N-glycanase.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16055502 2005 The retrotranslocation protein Derlin-1 binds peptide:N-glycanase to the endoplasmic reticulum.
15610852 2004 Using a small molecule inhibitor of peptide: N-glycanase to probe its role in glycoprotein turnover.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15362974 2004 A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs.
15358861 2004 A complex between peptide:N-glycanase and two proteasome-linked proteins suggests a mechanism for the degradation of misfolded glycoproteins.
14749736 2004 A glycosylated type I membrane protein becomes cytosolic when peptide: N-glycanase is compromised.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10831608 2000 PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.