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    Ngly1 N-glycanase 1 [ Mus musculus (house mouse) ]

    Gene ID: 59007, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ngly1provided by MGI
    Official Full Name
    N-glycanase 1provided by MGI
    Primary source
    MGI:MGI:1913276
    See related
    Ensembl:ENSMUSG00000021785 AllianceGenome:MGI:1913276
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Png1; PNGase; 1110002C09Rik
    Summary
    Predicted to enable peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity. Involved in glycoprotein catabolic process. Located in cytoplasm. Is expressed in axial musculature; nervous system; thymus primordium; and vibrissa. Human ortholog(s) of this gene implicated in congenital disorder of deglycosylation 1. Orthologous to human NGLY1 (N-glycanase 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 30.1), adrenal adult (RPKM 10.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ngly1 in Genome Data Viewer
    Location:
    14 A1; 14 7.08 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (6157837..6220449, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (16249314..16311926)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene retinoic acid receptor, beta Neighboring gene STARR-seq mESC enhancer starr_36026 Neighboring gene predicted gene, 53820 Neighboring gene predicted gene, 46442 Neighboring gene STARR-seq mESC enhancer starr_36025 Neighboring gene STARR-positive B cell enhancer ABC_E1166 Neighboring gene STARR-seq mESC enhancer starr_36024 Neighboring gene topoisomerase (DNA) II beta Neighboring gene STARR-seq mESC enhancer starr_36023 Neighboring gene STARR-seq mESC enhancer starr_36022 Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:17005903-17006137 Neighboring gene ribosomal protein L31, pseudogene 3 Neighboring gene 3-oxoacyl-ACP synthase, mitochondrial Neighboring gene ribosomal protein L4 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module. Zhou X, et al. Proc Natl Acad Sci U S A, 2006 Nov 14. PMID 17088551, Free PMC Article
    2. Purification and enzymatic properties of peptide:N-glycanase from C3H mouse-derived L-929 fibroblast cells. Possible widespread occurrence of post-translational remodification of proteins by N-deglycosylation. Suzuki T, et al. J Biol Chem, 1994 Jul 1. PMID 8021270
    3. Ngly1, a mouse gene encoding a deglycosylating enzyme implicated in proteasomal degradation: expression, genomic organization, and chromosomal mapping. Suzuki T, et al. Biochem Biophys Res Commun, 2003 May 2. PMID 12711318
    4. Alteration of N-glycosylation in the kidney in a mouse model of systemic lupus erythematosus: relative quantification of N-glycans using an isotope-tagging method. Hashii N, et al. Immunology, 2009 Mar. PMID 18710403, Free PMC Article
    5. JF1/B6F1 Ngly1(-/-) mouse as an isogenic animal model of NGLY1 deficiency. Asahina M, et al. Proc Jpn Acad Ser B Phys Biol Sci, 2021. PMID 33563880, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.
      Title: Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.
    2. Loss of peptide:N-glycanase causes proteasome dysfunction mediated by a sugar-recognizing ubiquitin ligase.
      Title: Loss of peptide:N-glycanase causes proteasome dysfunction mediated by a sugar-recognizing ubiquitin ligase.
    3. N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
      Title: N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
    4. findings reveal novel functions of the NGLY1-NRF1 (Nfe2l1) pathway in mitochondrial homeostasis and inflammation and uncover an unexpected therapeutic strategy using pharmacological activators of NRF2 for treating mitochondrial and immune dysregulation.
      Title: N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
    5. These observations strongly suggest that the Ngly1- or Ngly1/Engase-deficient mice could serve as a valuable animal model for studies related to the pathogenesis of the NGLY1-deficiency, and that cytoplasmic ENGase represents one of the potential therapeutic targets for this genetic disorder.
      Title: Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.
    6. study underscores the functional importance of Ngly1 in the ERAD process and provides a potential mechanism underlying the phenotypic consequences of a newly emerging genetic disorder caused by mutation of the human NGLY1 gene
      Title: Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells.
    7. cytoplasmic protein mouse p97(mp97) participates in the formation of a ternary complex containing mouse autocrine motility factor receptor (mAMFR), mp97, and peptide N-glycanase
      Title: The AAA ATPase p97 links peptide N-glycanase to the endoplasmic reticulum-associated E3 ligase autocrine motility factor receptor.
    8. enhances the activity of the mouse PNGase core domain, presumably by increasing the affinity of mouse PNGase for the glycan chains of misfolded glycoproteins
      Title: Structural and biochemical studies of the C-terminal domain of mouse peptide-N-glycanase identify it as a mannose-binding module.
    9. The crystal structure of the mouse peptide N-glycanase catalytic core in complex with the xeroderma pigmentosum group C binding domain from HR23B is described; the results suggest a co-evolution of ER-associated degradation and DNA repair pathways.
      Title: Structure of the mouse peptide N-glycanase-HR23 complex suggests co-evolution of the endoplasmic reticulum-associated degradation and DNA repair pathways.
    10. results suggested two possible pathways for the interaction between mPNGase and the proteasome; in one, mHR23B mediates the interaction between mPNGase and the proteasome; in an alternative pathway, mPNGase directly binds to the proteasome subunit, mS4
      Title: Multiple modes of interaction of the deglycosylation enzyme, mouse peptide N-glycanase, with the proteasome.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycoprotein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycoprotein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycoprotein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase
    Names
    peptide N-glycanase homolog
    NP_001349361.1
    NP_001349362.1
    NP_067479.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001362432.1 → NP_001349361.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC173482, AK148931, BC028961
      Conserved Domains (4) summary
      pfam03835
      Location:316 → 400
      Rad4; Rad4 transglutaminase-like domain
      pfam01841
      Location:253 → 332
      Transglut_core; Transglutaminase-like superfamily
      pfam04721
      Location:435 → 629
      PAW; PNGase C-terminal domain, mannose-binding module PAW
      cl15262
      Location:26 → 90
      PUB; PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins

    2. NM_001362433.1 → NP_001349362.1  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC173482, AK028248, AK169205, BC028961
      Consensus CDS
      CCDS88581.1
      UniProtKB/TrEMBL
      A0A286YCI0
      Related
      ENSMUSP00000152998.2, ENSMUST00000224656.2
      Conserved Domains (4) summary
      cd10459
      Location:19 → 109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      pfam03835
      Location:335 → 420
      Rad4; Rad4 transglutaminase-like domain
      pfam01841
      Location:272 → 351
      Transglut_core; Transglutaminase-like superfamily
      pfam04721
      Location:413 → 593
      PAW; PNGase C-terminal domain, mannose-binding module PAW

    3. NM_021504.3 → NP_067479.2  peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 1

      See identical proteins and their annotated locations for NP_067479.2

      Status: VALIDATED

      Source sequence(s)
      AK028248
      Consensus CDS
      CCDS26832.1
      UniProtKB/Swiss-Prot
      Q8K113, Q9CTK3, Q9JI78
      Related
      ENSMUSP00000022310.7, ENSMUST00000022310.7
      Conserved Domains (5) summary
      cd10459
      Location:19 → 109
      PUB_PNGase; PNGase/UBA or UBX (PUB) domain of the P97 adaptor protein Peptide:N-glycanase (PNGase)
      COG1305
      Location:290 → 351
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam01841
      Location:272 → 351
      Transglut_core; Transglutaminase-like superfamily
      pfam03835
      Location:335 → 419
      Rad4; Rad4 transglutaminase-like domain
      pfam04721
      Location:454 → 648
      PAW; PNGase C-terminal domain, mannose-binding module PAW

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      6157837..6220449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JI78.2 GenPept UniProtKB/Swiss-Prot:Q9JI78

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