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Aliases for NGLY1 Gene

Aliases for NGLY1 Gene

  • N-Glycanase 1 2 3 4
  • Peptide:N-Glycanase 3 4
  • EC 3.5.1.52 4 63
  • HPNGase 3 4
  • PNGase 3 4
  • PNG1 3 4
  • CDG1V 3
  • CDDG 3

External Ids for NGLY1 Gene

Previous GeneCards Identifiers for NGLY1 Gene

  • GC03M025468
  • GC03M025610
  • GC03M025735

Summaries for NGLY1 Gene

Entrez Gene Summary for NGLY1 Gene

  • 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-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

GeneCards Summary for NGLY1 Gene

NGLY1 (N-Glycanase 1) is a Protein Coding gene. Diseases associated with NGLY1 include alacrimia-choreoathetosis-liver dysfunction syndrome and congenital disorder of deglycosylation. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include damaged DNA binding and peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity.

UniProtKB/Swiss-Prot for NGLY1 Gene

  • 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.

Gene Wiki entry for NGLY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NGLY1 Gene

Genomics for NGLY1 Gene

Regulatory Elements for NGLY1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NGLY1 Gene

Chromosome:
3
Start:
25,718,944 bp from pter
End:
25,790,039 bp from pter
Size:
71,096 bases
Orientation:
Minus strand

Genomic View for NGLY1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NGLY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NGLY1 Gene

Proteins for NGLY1 Gene

  • Protein details for NGLY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IV0-NGLY1_HUMAN
    Recommended name:
    Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
    Protein Accession:
    Q96IV0
    Secondary Accessions:
    • B4DJE9
    • Q59FB1
    • Q6PJD8
    • Q9BVR8
    • Q9NR70

    Protein attributes for NGLY1 Gene

    Size:
    654 amino acids
    Molecular mass:
    74390 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Interacts with the proteasome components RAD23B and PSMC1. Interacts with directly with VCP. Interacts with DERL1, bringing it close to the endoplasmic reticulum membrane. Interacts with SAKS1.
    Miscellaneous:
    • In case of infection by cytomegaloviruses, it is not essential for degradation of MHC class I heavy chains
    SequenceCaution:
    • Sequence=AAH17220.1; Type=Erroneous termination; Positions=77; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAD92786.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NGLY1 Gene

    Alternative splice isoforms for NGLY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NGLY1 Gene

Proteomics data for NGLY1 Gene at MOPED

Post-translational modifications for NGLY1 Gene

  • Ubiquitination at Lys 92, Lys 123, Lys 204, Lys 272, Lys 300, Lys 419, Lys 448, Lys 451, Lys 477, and Lys 501
  • Modification sites at PhosphoSitePlus

Domains & Families for NGLY1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96IV0

UniProtKB/Swiss-Prot:

NGLY1_HUMAN :
  • The PUB domain mediates the interaction with VCP.
  • Belongs to the transglutaminase-like superfamily. PNGase family.
Domain:
  • The PUB domain mediates the interaction with VCP.
  • Contains 1 PAW domain.
  • Contains 1 PUB (PUG) domain.
Family:
  • Belongs to the transglutaminase-like superfamily. PNGase family.
genes like me logo Genes that share domains with NGLY1: view

No data available for Gene Families for NGLY1 Gene

Function for NGLY1 Gene

Molecular function for NGLY1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl)asparagine residue in which the glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Z-VAD-fmk, a well-known caspase inhibitor, which inhibits enzyme activity through covalent binding of the carbohydrate to the single Cys-306 residue.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for NGLY1 Gene

Gene Ontology (GO) - Molecular Function for NGLY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000224 peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity IEA --
GO:0005515 protein binding IPI 15358861
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NGLY1: view

Phenotypes for NGLY1 Gene

genes like me logo Genes that share phenotypes with NGLY1: view

Animal Model Products

miRNA for NGLY1 Gene

miRTarBase miRNAs that target NGLY1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NGLY1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NGLY1 Gene

Localization for NGLY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NGLY1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NGLY1 Gene COMPARTMENTS Subcellular localization image for NGLY1 gene
Compartment Confidence
cytosol 2
endoplasmic reticulum 2
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NGLY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15358861
genes like me logo Genes that share ontologies with NGLY1: view

Pathways & Interactions for NGLY1 Gene

genes like me logo Genes that share pathways with NGLY1: view

Pathways by source for NGLY1 Gene

1 KEGG pathway for NGLY1 Gene

Gene Ontology (GO) - Biological Process for NGLY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006516 glycoprotein catabolic process IDA 15358861
genes like me logo Genes that share ontologies with NGLY1: view

No data available for SIGNOR curated interactions for NGLY1 Gene

Drugs & Compounds for NGLY1 Gene

(1) Drugs for NGLY1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucosamine Approved Nutra 51
genes like me logo Genes that share compounds with NGLY1: view

Transcripts for NGLY1 Gene

Unigene Clusters for NGLY1 Gene

N-glycanase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NGLY1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NGLY1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - - -
SP8: - -
SP9: - -
SP10: - - - - - - -
SP11:
SP12: - -
SP13: -

ExUns: 15b ^ 16 ^ 17a · 17b · 17c
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NGLY1 Gene

GeneLoc Exon Structure for
NGLY1
ECgene alternative splicing isoforms for
NGLY1

Expression for NGLY1 Gene

mRNA expression in normal human tissues for NGLY1 Gene

Protein differential expression in normal tissues from HIPED for NGLY1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.2) and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NGLY1 Gene



SOURCE GeneReport for Unigene cluster for NGLY1 Gene Hs.368960

genes like me logo Genes that share expression patterns with NGLY1: view

Protein tissue co-expression partners for NGLY1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NGLY1 Gene

Orthologs for NGLY1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NGLY1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NGLY1 35
  • 85.83 (n)
  • 86.09 (a)
NGLY1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NGLY1 35
  • 92.09 (n)
  • 89.47 (a)
NGLY1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ngly1 35
  • 85.26 (n)
  • 84.99 (a)
Ngly1 16
Ngly1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NGLY1 35
  • 99.18 (n)
  • 99.24 (a)
NGLY1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ngly1 35
  • 83.65 (n)
  • 84.05 (a)
oppossum
(Monodelphis domestica)
Mammalia NGLY1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NGLY1 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves NGLY1 35
  • 70.25 (n)
  • 69.3 (a)
NGLY1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NGLY1 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ngly1 35
  • 67.25 (n)
  • 66.03 (a)
zebrafish
(Danio rerio)
Actinopterygii ngly1 35
  • 60.66 (n)
  • 58.85 (a)
ngly1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta PNGase 37
  • 33 (a)
Pngl 35
  • 46.22 (n)
  • 38.49 (a)
Pngl 36
  • 33 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007390 35
  • 45.29 (n)
  • 39.17 (a)
worm
(Caenorhabditis elegans)
Secernentea png-1 35
  • 46.81 (n)
  • 39.71 (a)
png-1 36
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR193W 35
  • 44.98 (n)
  • 38.78 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24223g 35
  • 46.99 (n)
  • 41.33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNG1 35
  • 49.77 (n)
  • 40.97 (a)
PNG1 36
  • 34 (a)
OneToOne
PNG1 38
wheat
(Triticum aestivum)
Liliopsida Ta.7525 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8469 35
bread mold
(Neurospora crassa)
Ascomycetes NCU00651 35
  • 48.3 (n)
  • 39.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1709.14 35
  • 49.95 (n)
  • 42.72 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
-- 36
  • 29 (a)
OneToMany
Species with no ortholog for NGLY1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NGLY1 Gene

ENSEMBL:
Gene Tree for NGLY1 (if available)
TreeFam:
Gene Tree for NGLY1 (if available)

Paralogs for NGLY1 Gene

No data available for Paralogs for NGLY1 Gene

Variants for NGLY1 Gene

Sequence variations from dbSNP and Humsavar for NGLY1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs113073744 -- 25,757,064(+) AAGGA(G/T)CCTCA intron-variant
rs113060969 -- 25,775,203(+) CTCTA(A/G)TATTT intron-variant
rs112968799 -- 25,774,038(+) GGACT(C/G)TGTGT intron-variant
rs112960167 -- 25,764,707(+) ATAAT(A/G)ATGAC intron-variant
rs112946067 -- 25,723,762(+) TTTTT(A/T)AATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NGLY1 Gene

Variant ID Type Subtype PubMed ID
nsv3736 CNV Insertion 18451855
esv2725055 CNV Deletion 23290073
nsv876633 CNV Gain 21882294
dgv71n17 CNV Loss 16327808

Variation tolerance for NGLY1 Gene

Residual Variation Intolerance Score: 16.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NGLY1 Gene

HapMap Linkage Disequilibrium report
NGLY1
Human Gene Mutation Database (HGMD)
NGLY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NGLY1 Gene

Disorders for NGLY1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NGLY1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
alacrimia-choreoathetosis-liver dysfunction syndrome
  • cdg1v
congenital disorder of deglycosylation
  • cdg1v
ngly1-cdg
  • congenital disorder of glycosylation, type iv
blepharitis
  • infective eyelid dermatitis of types resulting in deformity
- elite association
Search NGLY1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NGLY1_HUMAN
  • 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:0000269 PubMed:22581936, ECO:0000269 PubMed:24651605}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NGLY1

Genetic Association Database (GAD)
NGLY1
Human Genome Epidemiology (HuGE) Navigator
NGLY1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NGLY1
genes like me logo Genes that share disorders with NGLY1: view

No data available for Genatlas for NGLY1 Gene

Publications for NGLY1 Gene

  1. A glycosylated type I membrane protein becomes cytosolic when peptide: N-glycanase is compromised. (PMID: 14749736) Blom D. … Ploegh H.L. (EMBO J. 2004) 23 67
  2. Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping. (PMID: 12711318) Suzuki T. … Lennarz W.J. (Biochem. Biophys. Res. Commun. 2003) 23 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder. (PMID: 25398991) Suzuki T. (J. Biochem. 2015) 67

Products for NGLY1 Gene

Sources for NGLY1 Gene

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