NAGPA Gene Summary [Human]
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | NAGPA |
| Official Name | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Source:HGNC Symbol;Acc:HGNC:17378] |
| Ensembl ID | ENSG00000103174 |
| Bio databases IDs | |
| Aliases | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
| Synonyms | APAA, Clone 23953, N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase, N-acetylglucosamine-1-phosphodiester α-N-acetylglucosaminidase, UCE |
| 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 NAGPA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- internalization targeting signal
- cytoplasmic domain
- N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
- transmembrane domain
- enzyme
- protein binding
- Phosphodiester glycosidase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal cell carcinoma
- renal cell cancer
- idiopathic scoliosis
- vasculitis
role in cell
- formation
- organization
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
- cell surface
- cellular membrane
- cis Golgi networks
- clathrin-coated vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NAGPA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein modification process
- lysosome organization
- carbohydrate metabolic process
- protein glycosylation
- secretion of lysosomal enzymes
- protein targeting to lysosome
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity