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Q13724 (MOGS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 132. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mannosyl-oligosaccharide glucosidase

EC=3.2.1.106
Alternative name(s):
Processing A-glucosidase I
Gene names
Name:MOGS
Synonyms:GCS1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length837 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13724-1)

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.
Isoform 2 (identifier: Q13724-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: Missing.
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 837837Mannosyl-oligosaccharide glucosidase
PRO_0000057710

Regions

Topological domain1 – 3838Cytoplasmic Potential
Transmembrane39 – 5921Helical; Signal-anchor for type II membrane protein; Potential
Topological domain60 – 837778Lumenal Potential
Region76 – 13762Required for endoplasmic reticulum targeting By similarity
Motif3 – 97Endoplasmic reticulum targeting

Amino acid modifications

Glycosylation6571N-linked (GlcNAc...)

Natural variations

Alternative sequence1 – 106106Missing in isoform 2.
VSP_046921
Natural variant2221G → R.
Corresponds to variant rs3213671 [ dbSNP | Ensembl ].
VAR_049233
Natural variant2361E → Q. Ref.1
Corresponds to variant rs1063587 [ dbSNP | Ensembl ].
VAR_019361
Natural variant2391D → N. Ref.1
Corresponds to variant rs1063588 [ dbSNP | Ensembl ].
VAR_019362
Natural variant2931P → S. Ref.1
Corresponds to variant rs2268416 [ dbSNP | Ensembl ].
VAR_049234
Natural variant4861R → T in CDGIIb; loss of activity. Ref.9 Ref.10
VAR_018966
Natural variant4951R → P.
Corresponds to variant rs34075781 [ dbSNP | Ensembl ].
VAR_049235
Natural variant6521F → L in CDGIIb; loss of activity. Ref.9 Ref.10
VAR_018967
Natural variant7851G → S.
Corresponds to variant rs35533773 [ dbSNP | Ensembl ].
VAR_049236

Experimental info

Sequence conflict3301I → F in CAA60683. Ref.1
Sequence conflict3891V → A in CAA60683. Ref.1
Sequence conflict6051A → G in CAA60683. Ref.1
Sequence conflict8181Missing in CAA60683. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

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

FASTA83791,918
        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 

« Hide

Isoform 2 [UniParc].

Checksum: B9B38429664731E6
Show »

FASTA73180,703

References

« Hide '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] (ISOFORM 1), 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. expand/collapse author list , 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]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]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. expand/collapse author list , 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].
[7]"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] (ISOFORM 1).
Tissue: Brain.
[8]"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].
[9]"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.
[10]"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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS42700.1. [Q13724-1]
CCDS54370.1. [Q13724-2]
PIRS66258.
RefSeqNP_001139630.1. NM_001146158.1. [Q13724-2]
NP_006293.2. NM_006302.2. [Q13724-1]
UniGeneHs.516119.

3D structure databases

ProteinModelPortalQ13724.
SMRQ13724. Positions 94-830.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113599. 14 interactions.
IntActQ13724. 6 interactions.
MINTMINT-1414631.
STRING9606.ENSP00000233616.

Chemistry

ChEMBLCHEMBL4684.

Protein family/group databases

CAZyGH63. Glycoside Hydrolase Family 63.

PTM databases

PhosphoSiteQ13724.

Polymorphism databases

DMDM116242490.

Proteomic databases

MaxQBQ13724.
PaxDbQ13724.
PeptideAtlasQ13724.
PRIDEQ13724.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000233616; ENSP00000233616; ENSG00000115275. [Q13724-1]
ENST00000452063; ENSP00000388201; ENSG00000115275. [Q13724-2]
GeneID7841.
KEGGhsa:7841.
UCSCuc010ffh.3. human. [Q13724-1]

Organism-specific databases

CTD7841.
GeneCardsGC02M074688.
GeneReviewsMOGS.
H-InvDBHIX0002184.
HGNCHGNC:24862. MOGS.
HPAHPA011969.
MIM601336. gene.
606056. phenotype.
neXtProtNX_Q13724.
Orphanet79330. GCS1-CDG.
PharmGKBPA164723075.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG305138.
HOGENOMHOG000201473.
InParanoidQ13724.
KOK01228.
OMAWKAPLYT.
OrthoDBEOG7XSTD6.
PhylomeDBQ13724.
TreeFamTF300749.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00280.

Gene expression databases

ArrayExpressQ13724.
BgeeQ13724.
GenevestigatorQ13724.

Family and domain databases

InterProIPR008928. 6-hairpin_glycosidase-like.
IPR004888. Glycoside_hydrolase_63.
[Graphical view]
PANTHERPTHR10412:SF1. PTHR10412:SF1. 1 hit.
PfamPF03200. Glyco_hydro_63. 1 hit.
[Graphical view]
SUPFAMSSF48208. SSF48208. 1 hit.
ProtoNetSearch...

Other

ChiTaRSMOGS. human.
GeneWikiGCS1.
GenomeRNAi7841.
NextBio30249.
PROQ13724.
SOURCESearch...

Entry information

Entry nameMOGS_HUMAN
AccessionPrimary (citable) accession number: Q13724
Secondary accession number(s): A8K938 expand/collapse secondary AC list , F5H6D0, Q17RN9, Q8TCT5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 132 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries