GNPTAB Gene Summary [Human]
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | GNPTAB |
| Official Name | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Source:HGNC Symbol;Acc:HGNC:29670] |
| Ensembl ID | ENSG00000111670 |
| Bio databases IDs | |
| Aliases | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
| 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 | 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 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 human 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