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NGLY1 Gene

protein-coding   GIFtS: 62
GCID: GC03M025735

N-Glycanase 1

  See NGLY1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Glycanase 11 2 3     CDG1V2 5
PNG12 3 5     Peptide-N(4)-(N-Acetyl-Beta-Glucosaminyl)Asparagine Amidase2
PNGase2 3     peptide:N-glycanase2
hPNGase2 3     Peptide:N-glycanase3
EC 3.5.1.523 8     

External Ids:    HGNC: 176461   Entrez Gene: 557682   Ensembl: ENSG000001510927   OMIM: 6106615   UniProtKB: Q96IV03   

Export aliases for NGLY1 gene to outside databases

Previous GC identifers: GC03M025468 GC03M025610


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity.

UniProtKB/Swiss-Prot: NGLY1_HUMAN, Q96IV0
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

Gene Wiki entry for NGLY1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NGLY1 gene promoter:
         NF-1   NF-1/L   RelA   NF-kappaB   NF-kappaB1   FOXL1   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNGLY1 promoter sequence
   Search Chromatin IP Primers for NGLY1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NGLY1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p24.2   Ensembl cytogenetic band:  3p24.2   HGNC cytogenetic band: 3p23

NGLY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NGLY1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M025735:  view genomic region     (about GC identifiers)

Start:
25,760,435 bp from pter      End:
25,831,530 bp from pter
Size:
71,096 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NGLY1_HUMAN, Q96IV0 (See protein sequence)
Recommended Name: Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase  
Size: 654 amino acids; 74390 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: 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
Sequence caution: Sequence=AAH17220.1; Type=Erroneous termination; Positions=77; Note=Translated as Glu;
Sequence=BAD92786.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for NGLY1:
2CCQ (3D)        2CM0 (3D)    
Secondary accessions: B4DJE9 Q59FB1 Q6PJD8 Q9BVR8 Q9NR70
Alternative splicing: 5 isoforms:  Q96IV0-1   Q96IV0-2   Q96IV0-3   Q96IV0-4   Q96IV0-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NGLY1: NX_Q96IV0

Explore proteomics data for NGLY1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92, Lys123, Lys204, Lys272, Lys300, Lys419, Lys448, Lys451, Lys477, Lys501
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NGLY1 (Q96IV0) (see all 15)
     ISWKFEC  GFEARYV  EKYRSIR  SYVIAFS 


    See NGLY1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001138765.1  NP_001138766.1  NP_001138767.1  NP_060767.2  

    ENSEMBL proteins: 
     ENSP00000280700   ENSP00000379886   ENSP00000307980   ENSP00000280699   ENSP00000389888  
     ENSP00000412946   ENSP00000387430   ENSP00000395878  

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    Search eBioscience for ELISAs for NGLY1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR002931 Transglutaminase-like
     IPR018997 PUB_domain
     IPR006567 PUG-dom
     IPR008979 Galactose-bd-like
     IPR006588 Peptide_N_glycanase_PAW_dom

    Graphical View of Domain Structure for InterPro Entry Q96IV0

    ProtoNet protein and cluster: Q96IV0

    UniProtKB/Swiss-Prot: NGLY1_HUMAN, Q96IV0
    Domain: The PUB domain mediates the interaction with VCP
    Similarity: Belongs to the transglutaminase-like superfamily. PNGase family
    Similarity: Contains 1 PAW domain
    Similarity: Contains 1 PUB (PUG) domain


    Find genes that share domains with NGLY1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NGLY1_HUMAN, Q96IV0
    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
    Catalytic activity: 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
    Enzyme regulation: 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

         Enzyme Number (IUBMB): EC 3.5.1.521 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000224peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity IEA--
    GO:0003684damaged DNA binding ----
    GO:0005515protein binding IPI15358861
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with NGLY1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for NGLY1:
     Decreased p24 protein expressi  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NGLY1
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    hsa-mir-186-5p (MIRT045306)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NGLY1_HUMAN, Q96IV0: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA15358861

    Find genes that share ontologies with NGLY1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NGLY1 About    
    See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with NGLY1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for NGLY1):
        Protein processing in endoplasmic reticulum

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NGLY1
    Interactions:

        Search GeneGlobe Interaction Network for NGLY1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NGLY1 (Q96IV02, 3 ENSP000002807004) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VCPP550722, 3, ENSP000003517774MINT-7903948 I2D: score=2 STRING: ENSP00000351777
    AMFRQ9UKV53, ENSP000002906494I2D: score=2 STRING: ENSP00000290649
    UBXN1Q043233, ENSP000002941194I2D: score=1 STRING: ENSP00000294119
    RAD23BP547273, ENSP000003507084I2D: score=5 STRING: ENSP00000350708
    NSFL1CQ9UNZ22, ENSP000002168794MINT-7903948 STRING: ENSP00000216879
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006289nucleotide-excision repair ----
    GO:0006516glycoprotein catabolic process IDA15358861

    Find genes that share ontologies with NGLY1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NGLY1

    1 HMDB Compound for NGLY1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glucosamine2-Amino-2-deoxy-D-glucopyranose (see all 10)3416-24-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NGLY1 gene (5 alternative transcripts): 
    NM_001145293.1  NM_001145294.1  NM_001145295.1  NM_018297.3  NM_025105.1  

    Unigene Cluster for NGLY1:

    N-glycanase 1
    Hs.368960  [show with all ESTs]
    Unigene Representative Sequence: NM_018297
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489271 ENST00000280700 ENST00000493324 ENST00000396649 ENST00000467224
    ENST00000308710 ENST00000496726 ENST00000280699 ENST00000417874 ENST00000427041
    ENST00000461491 ENST00000474611 ENST00000478991 ENST00000463611 ENST00000428257(uc003cdk.3 uc003cdl.3 uc010hfg.3 uc003cdm.3 uc011awo.2)
    ENST00000422724
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      QuantiTect SYBR Green Assays in human, mouse, rat NGLY1
      QuantiFast Probe-based Assays in human, mouse, rat NGLY1

    Additional mRNA sequence: 

    AB114414.1 AB114415.1 AF250924.2 AK001867.1 AK296047.1 AL832748.1 BC000963.2 BC007226.1 
    BC017220.2 

    14 DOTS entries:

    DT.100796715  DT.100026099  DT.443708  DT.120928011  DT.100026100  DT.435466  DT.120927972  DT.120928006 
    DT.413873  DT.91741227  DT.91741228  DT.75135381  DT.95239822  DT.99985830 

    Selected AceView cDNA sequences (see all 194):

    BU158405 BX105058 BI027048 BM478543 AA400792 BM142576 AI743962 CA412944 
    AI698415 AA643030 AW001987 BI256514 BC017220 CB160600 BI520561 BG624080 
    AU122685 CA418577 BM804233 BE408444 BM795248 BC000963 BX332853 BU680543 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NGLY1 (see all 13)    About this scheme

    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:                                -     -                       -     -                             -                                                         

    ExUns: 15b ^ 16 ^ 17a · 17b · 17c
    SP1:                              
    SP2:                              
    SP3:        -                     
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for NGLY1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NGLY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATTATCT
    NGLY1 Expression
    About this image

    NGLY1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NGLY1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368960
        Custom PCR Arrays for NGLY1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NGLY1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NGLY1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ngly11 , 5 N-glycanase 11, 5 85.26(n)1
    84.99(a)1
      14 (7.08 cM)5
    590071  NM_021504.31  NP_067479.21 
     162492805 
    chicken
    (Gallus gallus)
    Aves NGLY11 N-glycanase 1 70.25(n)
    69.3(a)
      420655  NM_001030988.1  NP_001026159.1 
    lizard
    (Anolis carolinensis)
    Reptilia NGLY16
    N-glycanase 1
    69(a)
    1 ↔ 1
    GL343380.1(698381-729395)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX764992.12   -- 77.23(n)    BX764992.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ngly11 N-glycanase 1 60.66(n)
    58.85(a)
      553627  NM_001020601.1  NP_001018437.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PNGase3
    Pngl1

    peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine
    more3
    PNGase-like1
    33(a)3
    46.22(n)1
    38.49(a)1
      42A43
    355271  NM_165454.31  NP_724444.31 
    worm
    (Caenorhabditis elegans)
    Secernentea png-11 png-1 46.81(n)
    39.71(a)
      173028  NM_060512.4  NP_492913.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PNG1(YPL096W)4
    PNG11
    Conserved peptide N-glycanase required for deglycosylation more4
    PNG11
    49.77(n)1
    40.97(a)1
      16(366927-368018)4
    8560091, 4  NP_015229.11, 4 
    wheat
    (Triticum aestivum)
    Liliopsida Ta.75252 Triticum aestivum transcribed sequence with weak similarity more 72.32(n)    BE515906.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NGLY1 (see all 1471)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs800625401,2
    C,F--25759940(+) TATTAT/CATATT 4 -- ds50012Minor allele frequency- C:0.15CSA WA 120
    rs1877470501,2
    C--25759973(+) TTGAGC/TGGCAC 4 -- ds50010--------
    rs1917924231,2
    --25760103(+) CAGTGC/TTATCA 4 -- ds50010--------
    rs1995275431,2
    C--25760413(-) ATTTTG/TGCTAA 4 -- ds50010--------
    rs1840885281,2
    --25760488(+) TCATAA/TAAATT 4 -- ut310--------
    rs773927611,2
    F--25760587(+) GAATGG/CCTGAT 4 -- ut311Minor allele frequency- C:0.03NA 120
    rs1882415871,2
    --25760622(+) AAGCCC/GAAGAT 4 -- ut310--------
    rs1931766641,2
    --25760626(+) CCAAGA/GTTTTA 4 -- ut310--------
    rs794254151,2
    C--25760713(+) ATCCCA/CTATTG 4 -- ut310--------
    rs765038601,2
    C--25760714(+) TCCCAA/TATTGA 4 -- ut310--------

    HapMap Linkage Disequilibrium report for NGLY1 (25760435 - 25831530 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NGLY1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725055CNV Deletion23290073
    nsv3736CNV Insertion18451855
    dgv71n17CNV Loss16327808
    nsv876633CNV Gain21882294

    Human Gene Mutation Database (HGMD): NGLY1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NGLY1
    DNA2.0 Custom Variant and Variant Library Synthesis for NGLY1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610661   
    OMIM disorders: 615273  
    UniProtKB/Swiss-Prot: NGLY1_HUMAN, Q96IV0
  • 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. Congenital disorders of
    glycosylation result in a wide variety of clinical features, such as defects in the nervous system development,
    psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad
    spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation,
    and maintenance of cell functions. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 2 diseases for NGLY1:    
    About MalaCards
    congenital disorder of glycosylation, type iv    alacrimia-choreoathetosis-liver dysfunction syndrome


    Find genes that share disorders with NGLY1           About GenesLikeMe

    Genetic Association Database (GAD): NGLY1
    Human Genome Epidemiology (HuGE) Navigator: NGLY1 (2 documents)

    Export disorders for NGLY1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NGLY1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with NGLY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A glycosylated type I membrane protein becomes cytosolic when peptide: N-glycanase is compromised. (PubMed id 14749736)1, 2, 9 Blom D.... Ploegh H.L. (EMBO J. 2004)
    2. The PUB domain functions as a p97 binding module in human peptide N- glycanase. (PubMed id 16807242)1, 2 Allen M.D.... Bycroft M. (J. Biol. Chem. 2006)
    3. The retrotranslocation protein derlin-1 binds peptide:N-glycanase to the endoplasmic reticulum. (PubMed id 16055502)1, 2 Katiyar S.... Lennarz W.J. (Mol. Biol. Cell 2005)
    4. A novel UBA and UBX domain protein that binds polyubiquitin and VCP and is a substrate for SAPKs. (PubMed id 15362974)1, 2 McNeill H.... Cohen P. (Biochem. J. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. A complex between peptide:N-glycanase and two proteasome-linked proteins suggests a mechanism for the degradation of misfolded glycoproteins. (PubMed id 15358861)1, 2 Katiyar S.... Lennarz W.J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    8. Using a small molecule inhibitor of peptide: N-glycanase to probe its role in glycoprotein turnover. (PubMed id 15610852)1, 2 Misaghi S.... Korbel G.A. (Chem. Biol. 2004)
    9. PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase. (PubMed id 10831608)1, 2 Suzuki T.... Lennarz W.J. (J. Cell Biol. 2000)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55768 HGNC: 17646 AceView: NGLY1 Ensembl:ENSG00000151092 euGenes: HUgn55768
    ECgene: NGLY1 Kegg: 55768 H-InvDB: NGLY1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NGLY1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NGLY1 gene:
    Search GeneIP for patents involving NGLY1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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