GANAB Gene Summary [Human]
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GANAB |
| Official Name | glucosidase II alpha subunit [Source:HGNC Symbol;Acc:HGNC:4138] |
| Ensembl ID | ENSG00000089597 |
| Bio databases IDs | |
| Aliases | glucosidase II alpha subunit, neutral alpha-glucosidase AB |
| Synonyms | alpha glucosidase 2 alpha neutral subunit, G2AN, GIIA, GIIalpha, glucosidase II alpha subunit, glucosidase II α subunit, GLUII, Glycosyl Hydrolase Family 31, mKIAA0088, PKD3, α glucosidase 2 α neutral subunit |
| 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 GANAB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl hydrolases family 31
- Domain of unknown function (DUF5110)
- Alpha amylase catalytic domain family
- alpha-glucosidase
- glucosidase
- enzyme
- protein binding
- Galactose mutarotase-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- insulin-dependent diabetes mellitus
- autosomal dominant polycystic kidney disease type 3
- polycystic kidney disease 3 with polycystic liver disease
- autosomal dominant polycystic liver disease
- polycystic kidney disease type 3 without polycystic liver disease
- autosomal dominant polycystic kidney disease
- irritable bowel syndrome
- infection by HIV-1
role in cell
- phosphorylation in
- activation 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
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- annulus
- intracellular membrane-bounded organelle
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum lumen
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GANAB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- N-glycan processing
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular vesicular exosome
- melanosome
- intracellular membrane-bounded organelle
- membrane
- glucosidase II complex
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- glucan 1,3-alpha-glucosidase activity
- carbohydrate binding