ALG14 Gene Summary [Human]
This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Details
| Type | Protein Coding |
| Official Symbol | ALG14 |
| Official Name | ALG14 UDP-N-acetylglucosaminyltransferase subunit [Source:HGNC Symbol;Acc:HGNC:28287] |
| Ensembl ID | ENSG00000172339 |
| Bio databases IDs | |
| Aliases | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
| Synonyms | 5430428G01Rik, ALG14 UDP-N-acetylglucosaminyltransferase subunit, ALG14, UDP-N-acetylglucosaminyltransferase subunit, asparagine-linked glycosylation 14, CMS15, IDDEBF, MEPCA, RGD1312003 |
| 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 ALG14 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
- protein binding activity, bridging
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pneumonia
- nonalcoholic fatty liver disease
- myopathy, epilepsy, and progressive cerebral atrophy
- congenital myopathy
- congenital myasthenic syndrome type 15
- intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies
- aldosterone producing adrenocortical adenoma
- adenoma formation
- congenital disorders of glycosylation
- productive infection by HIV-1
regulates
- oligosaccharide-diphosphodolichol
- Carboxypeptidase Y
role in cell
- growth
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 ALG14 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein N-linked glycosylation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- UDP-N-acetylglucosamine transferase complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein anchor
- N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity