InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALG2

Summary

InnateDB Protein

IDBP-485471.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALG2

Protein Name

asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000417764

InnateDB Gene

IDBG-78514 (ALG2)

Protein Structure

UniProt Annotation

Function

Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate. {ECO:0000269PubMed:12684507}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.

Disease Associations

Congenital disorder of glycosylation 1I (CDG1I) [MIM:607906]: 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:12684507}. 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 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000033	alpha-1,3-mannosyltransferase activity
GO:0004378	GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity
GO:0005515	protein binding
GO:0033164	glycolipid 6-alpha-mannosyltransferase activity
GO:0043495	protein anchor
GO:0046982	protein heterodimerization activity
GO:0047485	protein N-terminus binding
GO:0048306	calcium-dependent protein binding

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0009058	biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0033577	protein glycosylation in endoplasmic reticulum
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0051592	response to calcium ion
GO:0097502	mannosylation

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0048471	perinuclear region of cytoplasm