Property Summary

NCBI Gene PubMed Count 18
Grant Count 48
R01 Count 14
Funding $9,801,362.25
PubMed Score 73.16
PubTator Score 139.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.226 0.000
lung cancer 1.100 0.008
ovarian cancer -1.700 0.000
dermatomyositis 1.100 0.005

Gene RIF (12)

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
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
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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.
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