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Q13724

- MOGS_HUMAN

UniProt

Q13724 - MOGS_HUMAN

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Protein
Mannosyl-oligosaccharide glucosidase
Gene
MOGS, GCS1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

Exohydrolysis of the non-reducing terminal glucose residues in the mannosyl-oligosaccharide Glc3Man9GlcNAc2.

Pathwayi

GO - Molecular functioni

  1. glucosidase activity Source: ProtInc
  2. mannosyl-oligosaccharide glucosidase activity Source: UniProtKB-EC

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. oligosaccharide metabolic process Source: InterPro
  3. post-translational protein modification Source: Reactome
  4. protein N-linked glycosylation Source: ProtInc
  5. protein N-linked glycosylation via asparagine Source: Reactome
  6. protein folding Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

ReactomeiREACT_23878. 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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:24862. MOGS.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3838Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei39 – 5921Helical; Signal-anchor for type II membrane protein; Reviewed prediction
Add
BLAST
Topological domaini60 – 837778Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: ProtInc
  2. endoplasmic reticulum membrane Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
  4. integral component of membrane Source: UniProtKB-KW
  5. membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti486 – 4861R → T in CDGIIb; loss of activity. 2 Publications
VAR_018966
Natural varianti652 – 6521F → L in CDGIIb; loss of activity. 2 Publications
VAR_018967

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi606056. phenotype.
Orphaneti79330. GCS1-CDG.
PharmGKBiPA164723075.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 837837Mannosyl-oligosaccharide glucosidase
PRO_0000057710Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi657 – 6571N-linked (GlcNAc...)

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ13724.
PaxDbiQ13724.
PeptideAtlasiQ13724.
PRIDEiQ13724.

PTM databases

PhosphoSiteiQ13724.

Expressioni

Gene expression databases

ArrayExpressiQ13724.
BgeeiQ13724.
GenevestigatoriQ13724.

Organism-specific databases

HPAiHPA011969.

Interactioni

Protein-protein interaction databases

BioGridi113599. 16 interactions.
IntActiQ13724. 7 interactions.
MINTiMINT-1414631.
STRINGi9606.ENSP00000233616.

Structurei

3D structure databases

ProteinModelPortaliQ13724.
SMRiQ13724. Positions 94-830.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni76 – 13762Required for endoplasmic reticulum targeting By similarity
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi3 – 97Endoplasmic reticulum targeting

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG305138.
HOGENOMiHOG000201473.
InParanoidiQ13724.
KOiK01228.
OMAiWKAPLYT.
OrthoDBiEOG7XSTD6.
PhylomeDBiQ13724.
TreeFamiTF300749.

Family and domain databases

InterProiIPR008928. 6-hairpin_glycosidase-like.
IPR004888. Glycoside_hydrolase_63.
[Graphical view]
PANTHERiPTHR10412:SF1. PTHR10412:SF1. 1 hit.
PfamiPF03200. Glyco_hydro_63. 1 hit.
[Graphical view]
SUPFAMiSSF48208. SSF48208. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MARGERRRRA VPAEGVRTAE RAARGGPGRR DGRGGGPRST AGGVALAVVV    50
LSLALGMSGR WVLAWYRARR AVTLHSAPPV LPADSSSPAV APDLFWGTYR 100
PHVYFGMKTR SPKPLLTGLM WAQQGTTPGT PKLRHTCEQG DGVGPYGWEF 150
HDGLSFGRQH IQDGALRLTT EFVKRPGGQH GGDWSWRVTV EPQDSGTSAL 200
PLVSLFFYVV TDGKEVLLPE VGAKGQLKFI SGHTSELGDF RFTLLPPTSP 250
GDTAPKYGSY NVFWTSNPGL PLLTEMVKSR LNSWFQHRPP GAPPERYLGL 300
PGSLKWEDRG PSGQGQGQFL IQQVTLKIPI SIEFVFESGS AQAGGNQALP 350
RLAGSLLTQA LESHAEGFRE RFEKTFQLKE KGLSSGEQVL GQAALSGLLG 400
GIGYFYGQGL VLPDIGVEGS EQKVDPALFP PVPLFTAVPS RSFFPRGFLW 450
DEGFHQLVVQ RWDPSLTREA LGHWLGLLNA DGWIGREQIL GDEARARVPP 500
EFLVQRAVHA NPPTLLLPVA HMLEVGDPDD LAFLRKALPR LHAWFSWLHQ 550
SQAGPLPLSY RWRGRDPALP TLLNPKTLPS GLDDYPRASH PSVTERHLDL 600
RCWVALGARV LTRLAEHLGE AEVAAELGPL AASLEAAESL DELHWAPELG 650
VFADFGNHTK AVQLKPRPPQ GLVRVVGRPQ PQLQYVDALG YVSLFPLLLR 700
LLDPTSSRLG PLLDILADSR HLWSPFGLRS LAASSSFYGQ RNSEHDPPYW 750
RGAVWLNVNY LALGALHHYG HLEGPHQARA AKLHGELRAN VVGNVWRQYQ 800
ATGFLWEQYS DRDGRGMGCR PFHGWTSLVL LAMAEDY 837
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti222 – 2221G → R.
Corresponds to variant rs3213671 [ dbSNP | Ensembl ].
VAR_049233
Natural varianti236 – 2361E → Q.1 Publication
Corresponds to variant rs1063587 [ dbSNP | Ensembl ].
VAR_019361
Natural varianti239 – 2391D → N.1 Publication
Corresponds to variant rs1063588 [ dbSNP | Ensembl ].
VAR_019362
Natural varianti293 – 2931P → S.1 Publication
Corresponds to variant rs2268416 [ dbSNP | Ensembl ].
VAR_049234
Natural varianti486 – 4861R → T in CDGIIb; loss of activity. 2 Publications
VAR_018966
Natural varianti495 – 4951R → P.
Corresponds to variant rs34075781 [ dbSNP | Ensembl ].
VAR_049235
Natural varianti652 – 6521F → L in CDGIIb; loss of activity. 2 Publications
VAR_018967
Natural varianti785 – 7851G → S.
Corresponds to variant rs35533773 [ dbSNP | Ensembl ].
VAR_049236

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 106106Missing in isoform 2.
VSP_046921Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti330 – 3301I → F in CAA60683. 1 Publication
Sequence conflicti389 – 3891V → A in CAA60683. 1 Publication
Sequence conflicti605 – 6051A → G in CAA60683. 1 Publication
Sequence conflicti818 – 8181Missing in CAA60683. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc010ffh.3. human. [Q13724-1]

Polymorphism databases

DMDMi116242490.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS42700.1. [Q13724-1 ]
CCDS54370.1. [Q13724-2 ]
PIRi S66258.
RefSeqi NP_001139630.1. NM_001146158.1. [Q13724-2 ]
NP_006293.2. NM_006302.2. [Q13724-1 ]
UniGenei Hs.516119.

3D structure databases

ProteinModelPortali Q13724.
SMRi Q13724. Positions 94-830.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113599. 16 interactions.
IntActi Q13724. 7 interactions.
MINTi MINT-1414631.
STRINGi 9606.ENSP00000233616.

Chemistry

ChEMBLi CHEMBL4684.

Protein family/group databases

CAZyi GH63. Glycoside Hydrolase Family 63.

PTM databases

PhosphoSitei Q13724.

Polymorphism databases

DMDMi 116242490.

Proteomic databases

MaxQBi Q13724.
PaxDbi Q13724.
PeptideAtlasi Q13724.
PRIDEi Q13724.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000233616 ; ENSP00000233616 ; ENSG00000115275 . [Q13724-1 ]
ENST00000452063 ; ENSP00000388201 ; ENSG00000115275 . [Q13724-2 ]
GeneIDi 7841.
KEGGi hsa:7841.
UCSCi uc010ffh.3. human. [Q13724-1 ]

Organism-specific databases

CTDi 7841.
GeneCardsi GC02M074688.
GeneReviewsi MOGS.
H-InvDB HIX0002184.
HGNCi HGNC:24862. MOGS.
HPAi HPA011969.
MIMi 601336. gene.
606056. phenotype.
neXtProti NX_Q13724.
Orphaneti 79330. GCS1-CDG.
PharmGKBi PA164723075.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG305138.
HOGENOMi HOG000201473.
InParanoidi Q13724.
KOi K01228.
OMAi WKAPLYT.
OrthoDBi EOG7XSTD6.
PhylomeDBi Q13724.
TreeFami TF300749.

Enzyme and pathway databases

UniPathwayi UPA00280 .
Reactomei REACT_23878. N-glycan trimming in the ER and Calnexin/Calreticulin cycle.

Miscellaneous databases

ChiTaRSi MOGS. human.
GeneWikii GCS1.
GenomeRNAii 7841.
NextBioi 30249.
PROi Q13724.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q13724.
Bgeei Q13724.
Genevestigatori Q13724.

Family and domain databases

InterProi IPR008928. 6-hairpin_glycosidase-like.
IPR004888. Glycoside_hydrolase_63.
[Graphical view ]
PANTHERi PTHR10412:SF1. PTHR10412:SF1. 1 hit.
Pfami PF03200. Glyco_hydro_63. 1 hit.
[Graphical view ]
SUPFAMi SSF48208. SSF48208. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. 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.

Entry informationi

Entry nameiMOGS_HUMAN
AccessioniPrimary (citable) accession number: Q13724
Secondary accession number(s): A8K938
, F5H6D0, Q17RN9, Q8TCT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 17, 2006
Last modified: September 3, 2014
This is version 133 of the entry and version 5 of the sequence. [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

External Data

Dasty 3

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