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Protein

Mannosyl-oligosaccharide glucosidase

Gene

MOGS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cleaves the distal alpha 1,2-linked glucose residue from the Glc3Man9GlcNAc2 oligosaccharide precursor in a highly specific manner.

Catalytic activityi

Glc3Man9GlcNAc2-[protein] + H2O = Glc2Man9GlcNAc2-[protein] + beta-D-glucopyranose.

Pathwayi: N-glycan degradation

This protein is involved in the pathway N-glycan degradation, which is part of Glycan metabolism.
View all proteins of this organism that are known to be involved in the pathway N-glycan degradation and in Glycan metabolism.

GO - Molecular functioni

  • glucosidase activity Source: ProtInc
  • mannosyl-oligosaccharide glucosidase activity Source: Reactome

GO - Biological processi

  • oligosaccharide metabolic process Source: InterPro
  • protein folding Source: Reactome
  • protein N-linked glycosylation Source: ProtInc

Keywordsi

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS03863-MONOMER
ReactomeiR-HSA-4793954 Defective MOGS causes MOGS-CDG (CDG-2b)
R-HSA-532668 N-glycan trimming in the ER and Calnexin/Calreticulin cycle
UniPathwayiUPA00280

Protein family/group databases

CAZyiGH63 Glycoside Hydrolase Family 63

Names & Taxonomyi

Protein namesi
Recommended name:
Mannosyl-oligosaccharide glucosidase (EC:3.2.1.106)
Alternative name(s):
Processing A-glucosidase I
Gene namesi
Name:MOGS
Synonyms:GCS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115275.11
HGNCiHGNC:24862 MOGS
MIMi601336 gene
neXtProtiNX_Q13724

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 38CytoplasmicSequence analysisAdd BLAST38
Transmembranei39 – 59Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini60 – 837LumenalSequence analysisAdd BLAST778

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Type IIb congenital disorder of glycosylation (CDGIIb)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms of the infant included hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course was progressive and the infant did not survive more than a few months.
See also OMIM:606056
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018966486R → T in CDGIIb; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121909291EnsemblClinVar.1
Natural variantiVAR_018967652F → L in CDGIIb; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121909292EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7841
GeneReviewsiMOGS
MalaCardsiMOGS
MIMi606056 phenotype
OpenTargetsiENSG00000115275
Orphaneti79330 GCS1-CDG
PharmGKBiPA164723075

Chemistry databases

ChEMBLiCHEMBL4684

Polymorphism and mutation databases

BioMutaiMOGS
DMDMi116242490

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000577101 – 837Mannosyl-oligosaccharide glucosidaseAdd BLAST837

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi657N-linked (GlcNAc...) asparagine1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ13724
MaxQBiQ13724
PaxDbiQ13724
PeptideAtlasiQ13724
PRIDEiQ13724
ProteomicsDBi59667

PTM databases

iPTMnetiQ13724
PhosphoSitePlusiQ13724
SwissPalmiQ13724

Expressioni

Gene expression databases

BgeeiENSG00000115275
ExpressionAtlasiQ13724 baseline and differential
GenevisibleiQ13724 HS

Organism-specific databases

HPAiHPA011322
HPA011969

Interactioni

Protein-protein interaction databases

BioGridi113599, 46 interactors
ELMiQ13724
IntActiQ13724, 24 interactors
MINTiQ13724
STRINGi9606.ENSP00000233616

Structurei

3D structure databases

ProteinModelPortaliQ13724
SMRiQ13724
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni76 – 137Required for endoplasmic reticulum targetingBy similarityAdd BLAST62

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi3 – 9Endoplasmic reticulum targeting7

Sequence similaritiesi

Belongs to the glycosyl hydrolase 63 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2161 Eukaryota
ENOG410XTHA LUCA
GeneTreeiENSGT00390000017452
HOGENOMiHOG000201473
InParanoidiQ13724
KOiK01228
OMAiENYWRSP
OrthoDBiEOG091G07DR
PhylomeDBiQ13724
TreeFamiTF300749

Family and domain databases

Gene3Di1.50.10.10, 1 hit
2.70.98.110, 1 hit
InterProiView protein in InterPro
IPR008928 6-hairpin_glycosidase_sf
IPR012341 6hp_glycosidase-like_sf
IPR031335 Glyco_hydro_63_C
IPR031631 Glyco_hydro_63N
IPR038518 Glyco_hydro_63N_sf
IPR004888 Glycoside_hydrolase_63
PANTHERiPTHR10412 PTHR10412, 1 hit
PfamiView protein in Pfam
PF03200 Glyco_hydro_63, 1 hit
PF16923 Glyco_hydro_63N, 1 hit
SUPFAMiSSF48208 SSF48208, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13724-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MARGERRRRA VPAEGVRTAE RAARGGPGRR DGRGGGPRST AGGVALAVVV
60 70 80 90 100
LSLALGMSGR WVLAWYRARR AVTLHSAPPV LPADSSSPAV APDLFWGTYR
110 120 130 140 150
PHVYFGMKTR SPKPLLTGLM WAQQGTTPGT PKLRHTCEQG DGVGPYGWEF
160 170 180 190 200
HDGLSFGRQH IQDGALRLTT EFVKRPGGQH GGDWSWRVTV EPQDSGTSAL
210 220 230 240 250
PLVSLFFYVV TDGKEVLLPE VGAKGQLKFI SGHTSELGDF RFTLLPPTSP
260 270 280 290 300
GDTAPKYGSY NVFWTSNPGL PLLTEMVKSR LNSWFQHRPP GAPPERYLGL
310 320 330 340 350
PGSLKWEDRG PSGQGQGQFL IQQVTLKIPI SIEFVFESGS AQAGGNQALP
360 370 380 390 400
RLAGSLLTQA LESHAEGFRE RFEKTFQLKE KGLSSGEQVL GQAALSGLLG
410 420 430 440 450
GIGYFYGQGL VLPDIGVEGS EQKVDPALFP PVPLFTAVPS RSFFPRGFLW
460 470 480 490 500
DEGFHQLVVQ RWDPSLTREA LGHWLGLLNA DGWIGREQIL GDEARARVPP
510 520 530 540 550
EFLVQRAVHA NPPTLLLPVA HMLEVGDPDD LAFLRKALPR LHAWFSWLHQ
560 570 580 590 600
SQAGPLPLSY RWRGRDPALP TLLNPKTLPS GLDDYPRASH PSVTERHLDL
610 620 630 640 650
RCWVALGARV LTRLAEHLGE AEVAAELGPL AASLEAAESL DELHWAPELG
660 670 680 690 700
VFADFGNHTK AVQLKPRPPQ GLVRVVGRPQ PQLQYVDALG YVSLFPLLLR
710 720 730 740 750
LLDPTSSRLG PLLDILADSR HLWSPFGLRS LAASSSFYGQ RNSEHDPPYW
760 770 780 790 800
RGAVWLNVNY LALGALHHYG HLEGPHQARA AKLHGELRAN VVGNVWRQYQ
810 820 830
ATGFLWEQYS DRDGRGMGCR PFHGWTSLVL LAMAEDY
Length:837
Mass (Da):91,918
Last modified:October 17, 2006 - v5
Checksum:i11C5B09301B50DEE
GO
Isoform 2 (identifier: Q13724-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.

Note: Gene prediction based on EST data.
Show »
Length:731
Mass (Da):80,703
Checksum:iB9B38429664731E6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti330I → F in CAA60683 (PubMed:7635146).Curated1
Sequence conflicti389V → A in CAA60683 (PubMed:7635146).Curated1
Sequence conflicti605A → G in CAA60683 (PubMed:7635146).Curated1
Sequence conflicti818Missing in CAA60683 (PubMed:7635146).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049233222G → R. Corresponds to variant dbSNP:rs3213671EnsemblClinVar.1
Natural variantiVAR_019361236E → Q1 PublicationCorresponds to variant dbSNP:rs1063587Ensembl.1
Natural variantiVAR_019362239D → N1 PublicationCorresponds to variant dbSNP:rs1063588EnsemblClinVar.1
Natural variantiVAR_049234293P → S1 PublicationCorresponds to variant dbSNP:rs2268416EnsemblClinVar.1
Natural variantiVAR_018966486R → T in CDGIIb; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121909291EnsemblClinVar.1
Natural variantiVAR_049235495R → P. Corresponds to variant dbSNP:rs34075781Ensembl.1
Natural variantiVAR_018967652F → L in CDGIIb; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs121909292EnsemblClinVar.1
Natural variantiVAR_049236785G → S. Corresponds to variant dbSNP:rs35533773EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0469211 – 106Missing in isoform 2. CuratedAdd BLAST106

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X87237 mRNA Translation: CAA60683.1
AJ422288 Genomic DNA Translation: CAD19636.1
AK292553 mRNA Translation: BAF85242.1
AC005041 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAW99653.1
BC117252 mRNA Translation: AAI17253.1
BC117250 mRNA Translation: AAI17251.1
CCDSiCCDS42700.1 [Q13724-1]
CCDS54370.1 [Q13724-2]
PIRiS66258
RefSeqiNP_001139630.1, NM_001146158.1 [Q13724-2]
NP_006293.2, NM_006302.2 [Q13724-1]
UniGeneiHs.516119

Genome annotation databases

EnsembliENST00000233616; ENSP00000233616; ENSG00000115275 [Q13724-1]
ENST00000452063; ENSP00000388201; ENSG00000115275 [Q13724-2]
GeneIDi7841
KEGGihsa:7841
UCSCiuc010ffi.4 human [Q13724-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMOGS_HUMAN
AccessioniPrimary (citable) accession number: Q13724
Secondary accession number(s): A8K938
, F5H6D0, Q17RN9, Q8TCT5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: June 20, 2018
This is version 171 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. SIMILARITY comments
    Index of protein domains and families

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