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    MOGS mannosyl-oligosaccharide glucosidase [ Homo sapiens (human) ]

    Gene ID: 7841, updated on 7-Apr-2024

    Summary

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    Official Symbol
    MOGSprovided by HGNC
    Official Full Name
    mannosyl-oligosaccharide glucosidaseprovided by HGNC
    Primary source
    HGNC:HGNC:24862
    See related
    Ensembl:ENSG00000115275 MIM:601336; AllianceGenome:HGNC:24862
    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
    DER7; GCS1; CDG2B; CWH41
    Summary
    This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in duodenum (RPKM 32.8), placenta (RPKM 24.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74461057..74465382, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74469624..74473950, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74688184..74692509, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16056 Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16057 Neighboring gene INO80 complex subunit B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74684936-74685442 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74685443-74685950 Neighboring gene WW domain binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11664 Neighboring gene Sharpr-MPRA regulatory region 2309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16061 Neighboring gene mitochondrial ribosomal protein L53 Neighboring gene coiled-coil domain containing 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16064

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Anzai R, et al. Brain Dev, 2021 Mar. PMID 33261925
    2. Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. Li M, et al. J Hum Genet, 2019 Mar. PMID 30587846
    3. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. Sadat MA, et al. N Engl J Med, 2014 Apr 24. PMID 24716661, Free PMC Article
    4. (Arg)3 within the N-terminal domain of glucosidase I contains ER targeting information but is not required absolutely for ER localization. Hardt B, et al. Glycobiology, 2003 Mar. PMID 12626409
    5. Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb). Völker C, et al. Glycobiology, 2002 Aug. PMID 12145188

    See all (131) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
      Title: Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
    2. Compound heterozygous variants in MOGS gene is associated with congenital disorders of glycosylation IIb.
      Title: Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
    3. A shortened immunoglobulin half-life was determined to be the mechanism underlying the hypogammaglobulinemia in congenital disorder of glycosylation type IIb (CDG-IIb).
      Title: Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
    4. MafF/NFE2 hetrodimers act as weak transcriptional activators, and, in particular, are able to stimulate activity of the GCS1 promoter.
      Title: Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.
    5. Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells.
      Title: Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells.
    6. identification of sequence motifs responsible for endoplasmic reticulum localization
      Title: (Arg)3 within the N-terminal domain of glucosidase I contains ER targeting information but is not required absolutely for ER localization.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify mannosyl-oligosaccharide glucosidase (MOGS; GCS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    env HIV-1 gp120 is identified to have a physical interaction with glucosidase (GCS1; MOGS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env The alpha-glucosidase inhibitor N-butyldeoxynojirimycin (NB-DNJ) inhibits HIV-1 entry and this inhibition correlates with impaired HIV-1 gp120 shedding and gp41 exposure and with changes in antibody recognition of gp120 PubMed
    env Imino sugar N-butyldeoxynojirimycin (NB-DNJ) inhibits HIV envelope glycoprotein gp120 processing mediated by alpha glucosidase I PubMed
    env HIV-1 gp120 is extremely heavily glycosylated (31-36 N-linked glycans per molecule) by glucosidase PubMed
    env Glucosidase inhibitors inhibit the syncytium formation between HIV-infected and CD4-expressing cells and interfere with HIV-1 infectivity, indicating processing of HIV-1 gp120 by glucosidase is important for virus replication PubMed
    Envelope surface glycoprotein gp160, precursor env Inhibitors of alpha-glucosidase inhibit syncytium formation induced by the envelope glycoprotein of HIV-1 and reduce processing of the HIV-1 envelope precursor protein gp160 by glucosidase PubMed
    env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify mannosyl-oligosaccharide glucosidase (MOGS; GCS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify mannosyl-oligosaccharide glucosidase (MOGS; GCS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify mannosyl-oligosaccharide glucosidase (MOGS; GCS1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with mannosyl-oligosaccharide glucosidase (MOGS; GCS1) 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

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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 GOA

    Function Evidence Code Pubs
    enables Glc3Man9GlcNAc2 oligosaccharide glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables Glc3Man9GlcNAc2 oligosaccharide glucosidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables glucosidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in oligosaccharide metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein folding TAS
    Traceable Author Statement
    more info
    		  
    involved_in viral protein processing TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    mannosyl-oligosaccharide glucosidase
    Names
    epididymis secretory sperm binding protein
    glucosidase I
    processing A-glucosidase I
    NP_001139630.1
    NP_006293.2

    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.

    Genomic

    1. NG_008922.1 RefSeqGene

      Range
      5029..9354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1226

    mRNA and Protein(s)

    1. NM_001146158.2 → NP_001139630.1  mannosyl-oligosaccharide glucosidase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment that includes the translation start site compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to variant 1.
      Source sequence(s)
      AA292430, BC028337, BC117250, DC388420
      Consensus CDS
      CCDS54370.1
      UniProtKB/TrEMBL
      Q58F09
      Related
      ENSP00000388201.2, ENST00000452063.7
      Conserved Domains (2) summary
      pfam03200
      Location:246 → 729
      Glyco_hydro_63; Glycosyl hydrolase family 63 C-terminal domain
      pfam16923
      Location:1 → 138
      Glyco_hydro_63N; Glycosyl hydrolase family 63 N-terminal domain

    2. NM_006302.3 → NP_006293.2  mannosyl-oligosaccharide glucosidase isoform 1

      See identical proteins and their annotated locations for NP_006293.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA292430, BC117252, DC402060
      Consensus CDS
      CCDS42700.1
      UniProtKB/Swiss-Prot
      A8K938, F5H6D0, Q13724, Q17RN9, Q8TCT5
      UniProtKB/TrEMBL
      A0A384MDR6, Q58F09
      Related
      ENSP00000410992.3, ENST00000448666.7
      Conserved Domains (2) summary
      pfam03200
      Location:352 → 835
      Glyco_hydro_63; Glycosyl hydrolase family 63 C-terminal domain
      pfam16923
      Location:94 → 244
      Glyco_hydro_63N; Glycosyl hydrolase family 63 N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      74461057..74465382 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      74469624..74473950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13724.5 GenPept UniProtKB/Swiss-Prot:Q13724

    Gene LinkOut

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