Homo sapiens Protein: ALG11
Summary
InnateDB Protein IDBP-477901.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALG11
Protein Name asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000430236
InnateDB Gene IDBG-401899 (ALG11)
Protein Structure
UniProt Annotation
Function Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol- linked oligosaccharide chain. {ECO:0000269PubMed:20080937}.
Subcellular Localization Endoplasmic reticulum {ECO:0000269PubMed:20080937}. Endoplasmic reticulum membrane {ECO:0000305PubMed:20080937}; Multi-pass membrane protein {ECO:0000305PubMed:20080937}.
Disease Associations Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:20080937, ECO:0000269PubMed:22213132}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004377 GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity
Biological Process
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0009058 biosynthetic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0097502 mannosylation
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR001296 Glycosyl transferase, family 1
PFAM PF00534
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q2TAA5
PhosphoSite PhosphoSite-Q2TAA5
TrEMBL
UniProt Splice Variant
Entrez Gene 440138
UniGene Hs.732220
RefSeq NP_001004127
HUGO HGNC:32456
OMIM 613666
CCDS CCDS31977
HPRD 11265
IMGT
EMBL AK296747 AL139082 BC010857 BC073862 BC111022 BC142998
GenPept AAH10857 AAH73862 AAI11023 AAI42999 BAG59331 CAI12890