DPAGT1 Gene Summary [Human]
The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | DPAGT1 |
| Official Name | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [Source:HGNC Symbol;Acc:HGNC:2995] |
| Ensembl ID | ENSG00000172269 |
| Bio databases IDs | |
| Aliases | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1, GlcNAc-1-P transferase 1, UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
| Synonyms | ALG7, CDG1J, CDG-Ij, CMS13, CMSTA2, D11S366, DGPT, dolichyl-phosphate N-acetylglucosaminephosphotransferase 1, DPAGT, DPAGT2, G1PT, GlcNAc-1-P transferase, GNPTA, GPT, H2afx, UAGT, UGAT |
| 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 DPAGT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase
- UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase
- Glycosyl transferase family 4
- enzyme
- protein binding
- identical protein binding
- GT_MraY-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital myasthenic syndrome with tubular aggregates 2
- congenital disorder of glycosylation type 1j
- congenital disorders of glycosylation
- hereditary disorder
- systemic juvenile idiopathic arthritis
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
- tubular aggregate myopathy
role in cell
- expression in
- migration
- growth
- morphology
- assembly
- assembly in
- turnover 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
- intracellular membrane-bounded organelle
- cellular membrane
- Golgi Apparatus
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DPAGT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein N-linked glycosylation
- UDP-N-acetylglucosamine metabolic process
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- membrane
Molecular Function
What the gene product does at the molecular level
- transferase activity, transferring glycosyl groups
- UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity
- identical protein binding
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
- protein binding
- metal ion binding