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
phenotypes
- abnormal blood vessel morphology
- abnormal facial morphology
- abnormal limb morphology
- cataract
- preweaning lethality incomplete penetrance
- Purkinje cell axonal dystrophy
- Purkinje cell degeneration
- abnormal bulbourethral gland morphology
- abnormal cell morphology
- abnormal cerebellar cortex morphology
- abnormal cerebellar molecular layer
- abnormal cerebellum white matter morphology
- abnormal chondrocyte morphology
- abnormal circulating enzyme level
- abnormal cognition
- abnormal compact bone morphology
- abnormal enzyme/coenzyme activity
- abnormal epiphyseal plate morphology
- abnormal exocrine gland morphology
- abnormal exocrine pancreas morphology
- abnormal eye electrophysiology
- abnormal fertility/fecundity
- abnormal gait
- abnormal hippocampus CA1 region morphology
- abnormal hippocampus CA3 region morphology
- abnormal lateral nasal gland morphology
- abnormal long bone diaphysis morphology
- abnormal lysosome morphology
- abnormal lysosome physiology
- abnormal osteoblast morphology
- abnormal osteoclast physiology
- abnormal osteocyte morphology
- abnormal pancreas morphology
- abnormal pancreatic acinar cell morphology
- abnormal pancreatic acinar cell zymogen granule morphology
- abnormal parotid gland acinus morphology
- abnormal retinal photoreceptor layer morphology
- abnormal salivary gland morphology
- abnormal skeleton development
- abnormal skeleton morphology
- abnormal skin turgor
- abnormal spine curvature
- abnormal submandibular gland morphology
- astrocytosis
- ataxia
- axonal spheroids
- brain atrophy
- brain inflammation
- cerebellum atrophy
- coarse facial features
- decreased body length
- decreased body size
- decreased body weight
- decreased bone mass
- decreased bone mineral content
- decreased bone mineral density
- decreased brain size
- decreased lean body mass
- decreased osteoblast cell number
- decreased survivor rate
- decreased trabecular bone volume
- demyelination
- flattened snout
- impaired coordination
- impaired osteoblast differentiation
- increased bone resorption
- increased circulating type I collagen C-terminal telopeptide level
- increased interleukin-6 secretion
- increased lysosomal enzyme secretion
- increased osteoclast cell number
- kyphosis
- limb grasping
- lysosomal protein accumulation
- osteoporosis
- penis prolapse
- postnatal growth retardation
- premature death
- prenatal lethality incomplete penetrance
- progressive muscle weakness
- retinal degeneration
- retinal photoreceptor degeneration
- short vertebral column
- small nasal bridge
- thick eyelids
- thick skin
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