InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALG6

Summary

InnateDB Protein

IDBP-99386.6

Last Modified

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

Gene Symbol

ALG6

Protein Name

asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000360149

InnateDB Gene

IDBG-99384 (ALG6)

Protein Structure

UniProt Annotation

Function

Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man(9)GlcNAc(2)-PP-Dol.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: 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:10359825, ECO:0000269PubMed:10914684, ECO:0000269PubMed:10924277, ECO:0000269PubMed:11106564, ECO:0000269PubMed:11134235, ECO:0000269PubMed:12357336, ECO:0000269PubMed:14517965}. 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 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016758	transferase activity, transferring hexosyl groups
GO:0046527	glucosyltransferase activity

Biological Process

GO:0006487	protein N-linked glycosylation
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process