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    NGLY1 N-glycanase 1 [ Homo sapiens (human) ]

    Gene ID: 55768, updated on 11-Jul-2021

    Summary

    Official Symbol
    NGLY1provided by HGNC
    Official Full Name
    N-glycanase 1provided by HGNC
    Primary source
    HGNC:HGNC:17646
    See related
    Ensembl:ENSG00000151092 MIM:610661
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDDG; PNG1; CDG1V; PNG-1; PNGase
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 28.0), lymph node (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NGLY1 in Genome Data Viewer
    Location:
    3p24.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (25718944..25790039, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (25760435..25831530, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DNA topoisomerase II beta Neighboring gene microRNA 4442 Neighboring gene cysteine rich protein 1 pseudogene 2 Neighboring gene ribosomal protein L32 pseudogene 11 Neighboring gene TATA-box binding protein associated factor 9b pseudogene 1 Neighboring gene 3-oxoacyl-ACP synthase, mitochondrial Neighboring gene uncharacterized LOC105377000 Neighboring gene long intergenic non-protein coding RNA 692

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of N-glycanase 1 (NGLY1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 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 PubMed
    Envelope transmembrane glycoprotein gp41 env 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 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11005, FLJ12409

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ER-associated misfolded protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycoprotein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glycoprotein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deglycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein deglycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deglycosylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein folding TAS
    Traceable Author Statement
    more info
     
    involved_in protein quality control for misfolded or incompletely synthesized proteins IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
    Names
    hPNGase
    peptide:N-glycanase
    NP_001138765.1
    NP_001138766.1
    NP_001138767.1
    NP_060767.2
    XP_005265373.1
    XP_005265374.1
    XP_011532246.1
    XP_016862328.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034108.1 RefSeqGene

      Range
      5001..76096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145293.2NP_001138765.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 2

      See identical proteins and their annotated locations for NP_001138765.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon that causes a frameshift and lacks an alternate exon which restores the reading frame, compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AC092798, BC000963, BC007226, BQ017148
      Consensus CDS
      CCDS46778.1
      UniProtKB/Swiss-Prot
      Q96IV0
      Related
      ENSP00000387430.1, ENST00000428257.5
      Conserved Domains (3) summary
      cd10459
      Location:19109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      pfam01841
      Location:275334
      Transglut_core; Transglutaminase-like superfamily
      pfam04721
      Location:439633
      PAW; PNGase C-terminal domain, mannose-binding module PAW
    2. NM_001145294.2NP_001138766.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 3

      See identical proteins and their annotated locations for NP_001138766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK296047, BQ017148, DC329733
      Consensus CDS
      CCDS46777.1
      UniProtKB/Swiss-Prot
      Q96IV0
      Related
      ENSP00000389888.2, ENST00000417874.6
      Conserved Domains (5) summary
      COG1305
      Location:251312
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam01841
      Location:233312
      Transglut_core; Transglutaminase-like superfamily
      pfam03835
      Location:296349
      Rad4; Rad4 transglutaminase-like domain
      pfam04721
      Location:415609
      PAW; PNGase C-terminal domain, mannose-binding module PAW
      cl15262
      Location:167
      PUB; PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
    3. NM_001145295.2NP_001138767.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC092798, BC007226, BC017220, BQ017148
      Consensus CDS
      CCDS46779.1
      UniProtKB/Swiss-Prot
      Q96IV0
      Related
      ENSP00000379886.3, ENST00000396649.7
      Conserved Domains (5) summary
      cd10459
      Location:19109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      COG1305
      Location:293354
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam01841
      Location:275354
      Transglut_core; Transglutaminase-like superfamily
      pfam03835
      Location:338391
      Rad4; Rad4 transglutaminase-like domain
      cl10509
      Location:457538
      PAW; PNGase C-terminal domain, mannose-binding module PAW
    4. NM_018297.4NP_060767.2  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 1

      See identical proteins and their annotated locations for NP_060767.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC092798, BC007226, BQ017148
      Consensus CDS
      CCDS33719.1
      UniProtKB/Swiss-Prot
      Q96IV0
      Related
      ENSP00000280700.5, ENST00000280700.10
      Conserved Domains (4) summary
      cd10459
      Location:19109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      pfam03835
      Location:338391
      Rad4; Rad4 transglutaminase-like domain
      pfam01841
      Location:275354
      Transglut_core; Transglutaminase-like superfamily
      pfam04721
      Location:457651
      PAW; PNGase C-terminal domain, mannose-binding module PAW

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      25718944..25790039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265317.1XP_005265374.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform X4

      Conserved Domains (5) summary
      cd10459
      Location:19109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      COG1305
      Location:293354
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam01841
      Location:275354
      Transglut_core; Transglutaminase-like superfamily
      pfam03835
      Location:338391
      Rad4; Rad4 transglutaminase-like domain
      cl10509
      Location:416483
      PAW; PNGase C-terminal domain, mannose-binding module PAW
    2. XM_005265316.1XP_005265373.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform X1

      Conserved Domains (5) summary
      cd10459
      Location:19109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      COG1305
      Location:293354
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam01841
      Location:275354
      Transglut_core; Transglutaminase-like superfamily
      pfam03835
      Location:338391
      Rad4; Rad4 transglutaminase-like domain
      pfam04721
      Location:416596
      PAW; PNGase C-terminal domain, mannose-binding module PAW
    3. XM_011533944.1XP_011532246.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform X3

      See identical proteins and their annotated locations for XP_011532246.1

      Related
      ENST00000674841.1
      Conserved Domains (5) summary
      COG1305
      Location:216277
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam01841
      Location:198277
      Transglut_core; Transglutaminase-like superfamily
      pfam03835
      Location:261314
      Rad4; Rad4 transglutaminase-like domain
      pfam04721
      Location:380574
      PAW; PNGase C-terminal domain, mannose-binding module PAW
      cl15262
      Location:132
      PUB; PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
    4. XM_017006839.2XP_016862328.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform X2

    RNA

    1. XR_001740200.2 RNA Sequence

    2. XR_002959548.1 RNA Sequence

    3. XR_940471.2 RNA Sequence

      Related
      ENST00000675234.1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_025105.1: Suppressed sequence

      Description
      NM_025105.1: This RefSeq was permanently suppressed because it is primarily intronic sequence.
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