ALG1 Gene Summary [Human]
The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
Details
| Type | Retained Intron |
| Official Symbol | ALG1 |
| Official Name | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Source:HGNC Symbol;Acc:HGNC:18294] |
| Ensembl ID | ENSG00000033011 |
| Bio databases IDs | |
| Aliases | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
| Synonyms | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase, ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase, ALG1 chitobiosyldiphosphodolichol β-mannosyltransferase, ALG1, chitobiosyldiphosphodolichol β-mannosyltransferase, CDG1K, HMAT1, HMT-1, Mat-1, MT-1 |
| 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 ALG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycosyltransferase family 1 and related proteins with GTB topology
- chitobiosyldiphosphodolichol beta-mannosyltransferase
- enzyme
- Glycosyl transferases group 1
- Glycosyltransferase Family 4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital disorder of glycosylation type 1k
- congenital disorders of glycosylation
- colorectal cancer
- hereditary disorder
- adenoma formation
- congenital disorder of glycosylation type 1a
- Finnish congenital nephrotic syndrome
- metastasis
- obesity
- aldosterone producing adrenocortical adenoma
regulated by
- metribolone
- beta-estradiol
- medroxyprogesterone acetate
- 8-bromo-cAMP
regulates
- CYP51A1
- oligosaccharide-diphosphodolichol
role in cell
- migration
- invasion by
- endoplasmic reticulum-associated degradation 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 ALG1 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
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- chitobiosyldiphosphodolichol beta-mannosyltransferase activity
- mannosyltransferase activity