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Aliases for NGLY1 Gene

Aliases for NGLY1 Gene

  • N-Glycanase 1 2 3 4
  • PNG1 3 4 6
  • Peptide:N-Glycanase 3 4
  • EC 3.5.1.52 4 64
  • HPNGase 3 4
  • PNGase 3 4
  • CDG1V 3 6
  • Peptide-N(4)-(N-Acetyl-Beta-Glucosaminyl)Asparagine Amidase 3

External Ids for NGLY1 Gene

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 congenital disorder of glycosylation, type iv and alacrimia-choreoathetosis-liver dysfunction syndrome. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include 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

Genomic Location for NGLY1 Gene

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

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys92, Lys123, Lys204, Lys272, Lys300, Lys419, Lys448, Lys451, Lys477, and Lys501

Domains for NGLY1 Gene

UniProtKB/Swiss-Prot:

NGLY1_HUMAN
Domain:
  • The PUB domain mediates the interaction with VCP.:
    • Q96IV0
  • Contains 1 PAW domain.:
    • Q96IV0
  • Contains 1 PUB (PUG) domain.:
    • Q96IV0
Family:
  • Belongs to the transglutaminase-like superfamily. PNGase family.:
    • Q96IV0
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:0003684 damaged DNA binding --
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

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

miRNA for NGLY1 Gene

miRTarBase miRNAs that target NGLY1

No data available for Animal Models , Transcription Factor Targeting 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
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NGLY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm IDA 15358861
genes like me logo Genes that share ontologies with NGLY1: view

Pathways 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:0006289 nucleotide-excision repair --
GO:0006516 glycoprotein catabolic process IDA 15358861
genes like me logo Genes that share ontologies with NGLY1: view

Compounds for NGLY1 Gene

(1) HMDB Compounds for NGLY1 Gene

Compound Synonyms Cas Number PubMed IDs
Glucosamine
  • 2-Amino-2-deoxy-D-glucopyranose
3416-24-8
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:

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

Integrated Proteomics: protein expression 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 expressions with NGLY1: view

Orthologs for NGLY1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NGLY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NGLY1 36
  • 99.18 (n)
  • 99.24 (a)
NGLY1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NGLY1 36
  • 85.83 (n)
  • 86.09 (a)
NGLY1 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NGLY1 36
  • 92.09 (n)
  • 89.47 (a)
NGLY1 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ngly1 36
  • 85.26 (n)
  • 84.99 (a)
Ngly1 16
Ngly1 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NGLY1 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NGLY1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ngly1 36
  • 83.65 (n)
  • 84.05 (a)
chicken
(Gallus gallus)
Aves NGLY1 36
  • 70.25 (n)
  • 69.3 (a)
NGLY1 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NGLY1 37
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ngly1 36
  • 67.25 (n)
  • 66.03 (a)
zebrafish
(Danio rerio)
Actinopterygii ngly1 36
  • 60.66 (n)
  • 58.85 (a)
ngly1 37
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007390 36
  • 45.29 (n)
  • 39.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pngl 36
  • 46.22 (n)
  • 38.49 (a)
Pngl 37
  • 33 (a)
OneToOne
PNGase 38
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea png-1 36
  • 46.81 (n)
  • 39.71 (a)
png-1 37
  • 30 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR193W 36
  • 44.98 (n)
  • 38.78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PNG1 36
  • 49.77 (n)
  • 40.97 (a)
PNG1 37
  • 34 (a)
OneToOne
PNG1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E24223g 36
  • 46.99 (n)
  • 41.33 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7525 36
bread mold
(Neurospora crassa)
Ascomycetes NCU00651 36
  • 48.3 (n)
  • 39.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1709.14 36
  • 49.95 (n)
  • 42.72 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8469 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 41 (a)
OneToMany
-- 37
  • 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
rs879912 -- 25,724,442(+) CCACT(C/T)GTAGT intron-variant
rs901953 -- 25,743,591(-) TATGG(A/G)AAGAG intron-variant
rs983481 -- 25,782,526(+) AATCT(A/G)CAAGG intron-variant
rs1048629 -- 25,719,389(-) TGCAT(C/G)CTTAG utr-variant-3-prime
rs1488989 -- 25,730,088(+) CTTCT(G/T)CATGT 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

Relevant External Links for NGLY1 Gene

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

Disorders for NGLY1 Gene

(1) OMIM Diseases for NGLY1 Gene (610661)

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

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) 3 4 23
  2. PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase. (PMID: 10831608) Suzuki T. … Lennarz W.J. (J. Cell Biol. 2000) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. A complex between peptide:N-glycanase and two proteasome-linked proteins suggests a mechanism for the degradation of misfolded glycoproteins. (PMID: 15358861) Katiyar S. … Lennarz W.J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4
  5. A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs. (PMID: 15362974) McNeill H. … Cohen P. (Biochem. J. 2004) 3 4

Products for NGLY1 Gene

Sources for NGLY1 Gene

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