ALG8 Gene Summary [Human]
This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALG8 |
| Official Name | ALG8 alpha-1,3-glucosyltransferase [Source:HGNC Symbol;Acc:HGNC:23161] |
| Ensembl ID | ENSG00000159063 |
| Bio databases IDs | |
| Aliases | ALG8 alpha-1,3-glucosyltransferase, dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase |
| Synonyms | AI447372, ALG8 alpha-1,3-glucosyltransferase, ALG8, alpha-1,3-glucosyltransferase, ALG8 α-1,3-glucosyltransferase, ALG8, α-1,3-glucosyltransferase, CDG1H, Gm1089, PCLD3 |
| 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 ALG8 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 Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
- Dol-P-Glc:Glc1Man9GlcNAc2-PP-Dol α-1,3-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
- preeclampsia
- congenital disorder of glycosylation type 1h
- polycystic liver disease 3 with or without kidney cysts
- major depression
- hereditary disorder
- autosomal dominant polycystic liver disease
- HER2 negative hormone receptor negative breast cancer
- polycystic liver disease 3 without kidney cysts
- polycystic liver disease 3 with kidney cysts
- congenital disorders of glycosylation
regulates
- oligosaccharide-diphosphodolichol
- PROM1
role in cell
- expression in
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 ALG8 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
- protein N-linked glycosylation via asparagine
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity
- dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity