ALG3 Gene Summary [Human]
This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | ALG3 |
| Official Name | ALG3 alpha-1,3- mannosyltransferase [Source:HGNC Symbol;Acc:HGNC:23056] |
| Ensembl ID | ENSG00000214160 |
| Bio databases IDs | |
| Aliases | ALG3 alpha-1,3- mannosyltransferase, carbohydrate deficient glycoprotein syndrome type IV, dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase, dol-P-Man dependent alpha-1,3- mannosyltransferase |
| Synonyms | ALG3 alpha-1,3- mannosyltransferase, ALG3, alpha-1,3- mannosyltransferase, ALG3 α-1,3- mannosyltransferase, ALG3, α-1,3- mannosyltransferase, CDG1D, CDGS4, CDGS6, D16Ertd36e, not, Not56, NOT56L |
| 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 ALG3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha-1,3-mannosyltransferase
- enzyme
- protein binding
- ALG3 protein
- Dol-P-Man:Man5GlcNAc2-PP-Dol α-1,3-mannosyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- HER2 negative hormone receptor negative breast cancer
- congenital disorder of glycosylation type 1d
- hereditary disorder
- organismal death
- cutaneous melanoma
- cutaneous melanoma cancer
- ovarian cancer
- mental retardation
- congenital disorders of glycosylation
role in cell
- expression in
- cellular infiltration by
- proliferation
- binding in
- sphere formation by
- dipeptide repeat protein sensitivity
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 ALG3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein glycosylation
- protein N-linked glycosylation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- alpha-1,3-mannosyltransferase activity
- protein binding
- dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity