Mannosyl-oligosaccharide glucosidase

Names and origin

Protein names

Recommended name:
    Mannosyl-oligosaccharide glucosidase
    EC=3.2.1.106
Alternative name(s):
    Processing A-glucosidase I

Gene names

Name:	MOGS
Synonyms:	GCS1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	837 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Cleaves the distal alpha 1,2-linked glucose residue from the Glc₃Man₉GlcNAc₂ oligosaccharide precursor in a highly specific manner.
Catalytic activity	Exohydrolysis of the non-reducing terminal glucose residues in the mannosyl-oligosaccharide Glc₃Man₉GlcNAc₂.
Pathway	Glycan metabolism; N-glycan degradation.
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein.
Involvement in disease	Defects in MOGS are the cause of type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]; also known as glucosidase I deficiency. CDGIIb is characterized 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.
Sequence similarities	Belongs to the glycosyl hydrolase 63 family.

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Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Signal-anchor Transmembrane
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	oligosaccharide metabolic process Inferred from electronic annotation. Source: InterPro protein amino acid N-linked glycosylation Ref.1 Traceable author statement. Source: ProtInc
Cellular component	endoplasmic reticulum Ref.1 Traceable author statement. Source: ProtInc integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	mannosyl-oligosaccharide glucosidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 837

837

Mannosyl-oligosaccharide glucosidase

PRO_0000057710

Regions

Topological domain

1 – 38

38

Cytoplasmic Potential

Transmembrane

39 – 59

21

Signal-anchor for type II membrane protein Potential

Topological domain

60 – 837

778

Lumenal Potential

Amino acid modifications

Glycosylation

657

1

N-linked (GlcNAc...)

Natural variations

Natural variant

222

1

G → R: dbSNP rs3213671.

VAR_049233

Natural variant

236

1

E → Q: dbSNP rs1063587. Ref.1

VAR_019361

Natural variant

239

1

D → N: dbSNP rs1063588. Ref.1

VAR_019362

Natural variant

293

1

P → S: dbSNP rs2268416. Ref.1

VAR_049234

Natural variant

486

1

R → T in CDGIIb; loss of activity. Ref.8 Ref.9

VAR_018966

Natural variant

495

1

R → P: dbSNP rs34075781.

VAR_049235

Natural variant

652

1

F → L in CDGIIb; loss of activity. Ref.8 Ref.9

VAR_018967

Natural variant

785

1

G → S: dbSNP rs35533773.

VAR_049236

Experimental info

Sequence conflict

330

1

I → F in CAA60683. Ref.1

Sequence conflict

389

1

V → A in CAA60683. Ref.1

Sequence conflict

605

1

A → G in CAA60683. Ref.1

Sequence conflict

818

1

Missing in CAA60683. Ref.1

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Sequences

Sequence

Length

Mass (Da)

Tools

Q13724-1 [UniParc].

Last modified October 17, 2006. Version 5.
Checksum: 11C5B09301B50DEE
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FASTA

837

91,918

        10         20         30         40         50         60 
MARGERRRRA VPAEGVRTAE RAARGGPGRR DGRGGGPRST AGGVALAVVV LSLALGMSGR 

        70         80         90        100        110        120 
WVLAWYRARR AVTLHSAPPV LPADSSSPAV APDLFWGTYR PHVYFGMKTR SPKPLLTGLM 

       130        140        150        160        170        180 
WAQQGTTPGT PKLRHTCEQG DGVGPYGWEF HDGLSFGRQH IQDGALRLTT EFVKRPGGQH 

       190        200        210        220        230        240 
GGDWSWRVTV EPQDSGTSAL PLVSLFFYVV TDGKEVLLPE VGAKGQLKFI SGHTSELGDF 

       250        260        270        280        290        300 
RFTLLPPTSP GDTAPKYGSY NVFWTSNPGL PLLTEMVKSR LNSWFQHRPP GAPPERYLGL 

       310        320        330        340        350        360 
PGSLKWEDRG PSGQGQGQFL IQQVTLKIPI SIEFVFESGS AQAGGNQALP RLAGSLLTQA 

       370        380        390        400        410        420 
LESHAEGFRE RFEKTFQLKE KGLSSGEQVL GQAALSGLLG GIGYFYGQGL VLPDIGVEGS 

       430        440        450        460        470        480 
EQKVDPALFP PVPLFTAVPS RSFFPRGFLW DEGFHQLVVQ RWDPSLTREA LGHWLGLLNA 

       490        500        510        520        530        540 
DGWIGREQIL GDEARARVPP EFLVQRAVHA NPPTLLLPVA HMLEVGDPDD LAFLRKALPR 

       550        560        570        580        590        600 
LHAWFSWLHQ SQAGPLPLSY RWRGRDPALP TLLNPKTLPS GLDDYPRASH PSVTERHLDL 

       610        620        630        640        650        660 
RCWVALGARV LTRLAEHLGE AEVAAELGPL AASLEAAESL DELHWAPELG VFADFGNHTK 

       670        680        690        700        710        720 
AVQLKPRPPQ GLVRVVGRPQ PQLQYVDALG YVSLFPLLLR LLDPTSSRLG PLLDILADSR 

       730        740        750        760        770        780 
HLWSPFGLRS LAASSSFYGQ RNSEHDPPYW RGAVWLNVNY LALGALHHYG HLEGPHQARA 

       790        800        810        820        830 
AKLHGELRAN VVGNVWRQYQ ATGFLWEQYS DRDGRGMGCR PFHGWTSLVL LAMAEDY

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and expression of glucosidase I from human hippocampus." Kalz-Fueller B., Bieberich E., Bause E. Eur. J. Biochem. 231:344-351(1995) [PubMed: 7635146] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLN-236; ASN-239 AND SER-293. Tissue: Hippocampus.
[2]	Erratum Kalz-Fueller B., Bieberich E., Bause E. Eur. J. Biochem. 249:912-912(1997)
[3]	Voelker C. Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency." De Praeter C.M., Gerwig G.J., Bause E., Nuytinck L.K., Vliegenthart J.F.G., Breuer W., Kamerling J.P., Espeel M.F., Martin J.-J., De Paepe A.M., Chan N.W.C., Dacremont G.A., Van Coster R.N. Am. J. Hum. Genet. 66:1744-1756(2000) [PubMed: 10788335] [Abstract] Cited for: VARIANTS CDGIIB THR-486 AND LEU-652.
[9]	"Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)." Voelker C., De Praeter C.M., Hardt B., Breuer W., Kalz-Fueller B., Van Coster R.N., Bause E. Glycobiology 12:473-483(2002) [PubMed: 12145188] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDGIIB THR-486 AND LEU-652.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases
EMBL GenBank DDBJ	X87237 mRNA. Translation: CAA60683.1. AJ422288 Genomic DNA. Translation: CAD19636.1. AK292553 mRNA. Translation: BAF85242.1. CH471053 Genomic DNA. Translation: EAW99653.1. BC117252 mRNA. Translation: AAI17253.1. BC117250 mRNA. Translation: AAI17251.1.
IPI	IPI00328170.
PIR	S66258.
RefSeq	NP_001139630.1. NP_006293.2.
UniGene	Hs.516119
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13724. 2 interactions.
STRING	Q13724.
Protein family/group databases
CAZy	GH63. Glycoside Hydrolase Family 63.
Proteomic databases
PeptideAtlas	Q13724.
PRIDE	Q13724.
Genome annotation databases
Ensembl	ENST00000233616; ENSP00000233616; ENSG00000115275; Homo sapiens. [Genome view]
GeneID	7841.
KEGG	hsa:7841.
UCSC	uc010ffj.1. human.
Organism-specific databases
CTD	7841.
GeneCards	GC02M074541.
HGNC	HGNC:24862. MOGS.
HPA	HPA011969.
MIM	601336. gene. 606056. phenotype.
Orphanet	79330. CDG syndrome, type IIb.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15435.
HOGENOM	HBG327845.
HOVERGEN	Q13724.
InParanoid	Q13724.
OMA	GRWVLAW.
OrthoDB	EOG9NCPZW.
PhylomeDB	Q13724.
Enzyme and pathway databases
BRENDA	3.2.1.106. 247.
Gene expression databases
ArrayExpress	Q13724.
Bgee	Q13724.
Genevestigator	Q13724.
GermOnline	ENSG00000115275. Homo sapiens.
Family and domain databases
InterPro	IPR008928. 6-hairpin_glycosidase-like. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30249.
SOURCE	Search...

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Entry information

Entry name

MOGS_HUMAN

Accession

Primary (citable) accession number: Q13724
Secondary accession number(s): A8K938, Q17RN9, Q8TCT5

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	October 17, 2006
Last modified:	February 9, 2010
This is version 87 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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