GNPTG Gene Summary [Human]
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GNPTG |
| Official Name | N-acetylglucosamine-1-phosphate transferase subunit gamma [Source:HGNC Symbol;Acc:HGNC:23026] |
| Ensembl ID | ENSG00000090581 |
| Bio databases IDs | |
| Aliases | N-acetylglucosamine-1-phosphate transferase subunit gamma, GlcNAc-phosphotransferase gamma-subunit |
| Synonyms | 6430527N14Rik, A830081F19, AU067744, C16orf27, CAB56184, GNPTAG, LOC100505011, LP2537, Mdcp1, N-acetylglucosamine-1-phosphate transferase subunit gamma, N-acetylglucosamine-1-phosphate transferase subunit γ, N-acetylglucosamine-1-phosphotransferase, gamma subunit, N-acetylglucosamine-1-phosphotransferase, γ subunit, RJD9, Tce7 |
| 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 GNPTG 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
- Glucosidase II beta subunit-like protein
- protein homodimerization
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Extracellular Space
- Golgi Apparatus
- Golgi membrane
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GNPTG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- N-glycan processing to lysosome
- carbohydrate phosphorylation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex
- Golgi membrane
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
- protein homodimerization activity
- protein binding