ALG13 Gene Summary [Human]
The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ALG13 |
| Official Name | ALG13 UDP-N-acetylglucosaminyltransferase subunit [Source:HGNC Symbol;Acc:HGNC:30881] |
| Ensembl ID | ENSG00000101901 |
| Bio databases IDs | |
| Aliases | ALG13 UDP-N-acetylglucosaminyltransferase subunit, tudor domain containing 13, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase |
| Synonyms | 2810046O15Rik, 4833435D08Rik, ALG13 UDP-N-acetylglucosaminyltransferase subunit, asparagine-linked glycosylation 13, CDG1S, CXorf45, DEE36, EIEE36, GLT28D1, LOC100503426, MDS031, TDRD13, YGL047W |
| 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 ALG13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
- enzyme
- protein binding
- Tudor domain superfamily
- OTU-like cysteine protease
- OTU (ovarian tumor) domain family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- developmental epileptic encephalopathy
- congenital disorders of glycosylation
- mental retardation
- idiopathic scoliosis
- early missed abortion
- microcephaly
- epilepsy
regulated by
- TCR (complex)
- CELF2
regulates
- MTORC1
- oligosaccharide-diphosphodolichol
- Carboxypeptidase Y
role in cell
- growth
- plasticity
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 ALG13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteolysis
- protein N-linked glycosylation
- 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
- ubiquitin-specific protease activity
- N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity