Q13724 (MOGS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

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

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	Type IIb congenital disorder of glycosylation (CDGIIb) [MIM:606056]: 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. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Belongs to the glycosyl hydrolase 63 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosidase Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	oligosaccharide metabolic process Inferred from electronic annotation. Source: InterPro post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome protein folding Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	glucosidase activity Traceable author statement Ref.1. Source: ProtInc mannosyl-oligosaccharide glucosidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	60 – 837	778	Lumenal Potential
	Region	76 – 137	62	Required for endoplasmic reticulum targeting By similarity
	Motif	3 – 9	7	Endoplasmic reticulum targeting
Amino acid modifications
	Glycosylation	657	1	N-linked (GlcNAc...)
Natural variations
	Natural variant	222	1	G → R. Corresponds to variant rs3213671 [ dbSNP | Ensembl ].		VAR_049233
	Natural variant	236	1	E → Q. Ref.1 Corresponds to variant rs1063587 [ dbSNP | Ensembl ].		VAR_019361
	Natural variant	239	1	D → N. Ref.1 Corresponds to variant rs1063588 [ dbSNP | Ensembl ].		VAR_019362
	Natural variant	293	1	P → S. Ref.1 Corresponds to variant rs2268416 [ dbSNP | Ensembl ].		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. Corresponds to variant rs34075781 [ dbSNP | Ensembl ].		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. Corresponds to variant rs35533773 [ dbSNP | Ensembl ].		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

Sequences

	Sequence		Length	Mass (Da)
	Q13724 [UniParc]. Last modified October 17, 2006. Version 5. Checksum: 11C5B09301B50DEE	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

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] [Europe PMC] [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. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [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. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS CDGIIB THR-486 AND LEU-652.
+	Additional computationally mapped references.

Web resources

GeneReviews

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. NM_001146158.1. NP_006293.2. NM_006302.2.
UniGene	Hs.516119.
3D structure databases
ProteinModelPortal	Q13724.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13724. 6 interactions.
MINT	MINT-1414631.
STRING	9606.ENSP00000233616.
Protein family/group databases
CAZy	GH63. Glycoside Hydrolase Family 63.
PTM databases
PhosphoSite	Q13724.
Polymorphism databases
DMDM	116242490.
Proteomic databases
PaxDb	Q13724.
PeptideAtlas	Q13724.
PRIDE	Q13724.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000233616; ENSP00000233616; ENSG00000115275.
GeneID	7841.
KEGG	hsa:7841.
UCSC	uc010ffh.3. human.
Organism-specific databases
CTD	7841.
GeneCards	GC02M074688.
H-InvDB	HIX0002184.
HGNC	HGNC:24862. MOGS.
HPA	HPA011969.
MIM	601336. gene. 606056. phenotype.
neXtProt	NX_Q13724.
Orphanet	79330. CDG syndrome type IIb.
PharmGKB	PA164723075.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG305138.
HOGENOM	HOG000201473.
InParanoid	Q13724.
KO	K01228.
OMA	WKAPLYT.
OrthoDB	EOG40VVNZ.
PhylomeDB	Q13724.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00280.
Gene expression databases
ArrayExpress	Q13724.
Bgee	Q13724.
Genevestigator	Q13724.
GermOnline	ENSG00000115275. Homo sapiens.
Family and domain databases
InterPro	IPR008928. 6-hairpin_glycosidase-like. IPR004888. Glycoside_hydrolase_63. [Graphical view]
PANTHER	PTHR10412. PTHR10412. 1 hit.
Pfam	PF03200. Glyco_hydro_63. 1 hit. [Graphical view]
SUPFAM	SSF48208. Glyco_trans_6hp. 1 hit.
ProtoNet	Search...
Other
ChEMBL	CHEMBL4684.
ChiTaRS	MOGS. human.
GenomeRNAi	7841.
NextBio	30249.
SOURCE	Search...

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:	May 1, 2013
This is version 118 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.