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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
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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

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