Gnptab Gene Summary [Mouse]
Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Acts upstream of or within carbohydrate phosphorylation; establishment of localization in cell; and secretion of lysosomal enzymes. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. Used to study mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gnptab |
| Official Name | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [Source:MGI Symbol;Acc:MGI:3643902] |
| Ensembl ID | ENSMUSG00000035311 |
| Bio databases IDs | |
| Aliases | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits |
| Synonyms | EG432486, GLCNAC PHOSPHOTRANSFERASE alpha/beta SUBUNITS, GlCNAC-PHOSPHOTRANSFERASE alpha/beta-SUBUNITS precursor, GLCNAC PHOSPHOTRANSFERASE α/β SUBUNITS, GlCNAC-PHOSPHOTRANSFERASE α/β-SUBUNITS precursor, GNPTA, ICD, MGC4170, N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits, N-acetylglucosamine-1-phosphate transferase subunits alpha and beta, N-acetylglucosamine-1-phosphate transferase subunits α and β, N-acetylglucosamine-1-phosphate transferase, α and β subunits, RGD1564821 |
| Species | Mouse, Mus musculus |
| 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 mouse Gnptab often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Stealth protein CR4, conserved region 4
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase
- Stealth protein CR1, conserved region 1
- RNA recognition motif (RRM) superfamily
- Putative GlcNAc-1 phosphotransferase regulatory domain
- DMAP1-binding Domain
- LNR domain
- Stealth protein CR2, conserved region 2
- enzyme
- protein binding
- Stealth protein CR3, conserved region 3
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mucolipidosis type II
- growth failure
- mucolipidosis
- mucopolysaccharidosis type IIIA
- mucolipidosis III alpha/beta
- GNPTAB-mucolipidosis
- kyphosis
- neurodegeneration
- hereditary disorder
- psychomotor retardation
role in cell
- expression in
- proliferation
- accumulation
- accumulation in
- abnormal morphology
- loss
- organization
- area
- storage 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
- Golgi Apparatus
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Gnptab gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lysosome organization
- secretion of lysosomal enzymes
- N-glycan processing to lysosome
- carbohydrate phosphorylation
Cellular Component
Where in the cell the gene product is active
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
- protein binding
- calcium ion binding