Reviewed,
UniProtKB/Swiss-Prot Q13724 (MOGS_HUMAN)
Last modified
February 9, 2010.
Version 87.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Mannosyl-oligosaccharide glucosidase EC=3.2.1.106 Alternative name(s): Processing A-glucosidase I | ||||
| Gene names |
| ||||
| 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 |
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 | |
| 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. |
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.1Traceable author statement. Source: ProtInc |
| Cellular component | endoplasmic reticulum Ref.1 Traceable author statement. Source: ProtInc integral to membraneInferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Ref.1Traceable author statement. Source: ProtInc |
| Molecular function | 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 | 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 | ||||||
Sequences
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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: 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. |
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... |
Entry information
| Entry name | MOGS_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13724 Secondary accession number(s): A8K938, Q17RN9, Q8TCT5 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Glycosyl hydrolases Classification of glycosyl hydrolase families and list of entries |
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


