ALG6 Gene Summary [Human]
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ALG6 |
| Official Name | ALG6 alpha-1,3-glucosyltransferase [Source:HGNC Symbol;Acc:HGNC:23157] |
| Ensembl ID | ENSG00000088035 |
| Bio databases IDs | |
| Aliases | ALG6 alpha-1,3-glucosyltransferase, dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase |
| Synonyms | ALG6 alpha-1,3-glucosyltransferase, ALG6, alpha-1,3-glucosyltransferase, ALG6 α-1,3-glucosyltransferase, ALG6, α-1,3-glucosyltransferase, BX005053.5, CDG1C, E230028F23RIK |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALG6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
- Dol-P-Glc:Man9GlcNAc2-PP-Dol α-1,3-glucosyltransferase
- glucosyltransferase
- enzyme
- protein binding
- dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase
- ALG6, ALG8 glycosyltransferase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- adenoma formation
- congenital disorder of glycosylation type 1c
- hereditary disorder
- cystic kidney disease
- aldosterone producing adrenocortical adenoma
regulated by
regulates
- PROM1
- oligosaccharide-diphosphodolichol
role in cell
- expression in
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALG6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oligosaccharide-lipid intermediate biosynthetic process
- protein N-linked glycosylation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity
- dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity
- glucosyltransferase activity