GYG1 Gene Summary [Human]
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Details
| Type | Protein Coding |
| Official Symbol | GYG1 |
| Official Name | glycogenin 1 [Source:HGNC Symbol;Acc:HGNC:4699] |
| Ensembl ID | ENSG00000163754 |
| Bio databases IDs | |
| Aliases | glycogenin 1, glycogenin glucosyltransferase |
| Synonyms | Glycogenin 1, GN1, GSD15, GYG |
| 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 GYG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycogenin glucosyltransferase
- glucose binding
- protein homodimerization
- enzyme
- protein binding
- manganese ion binding
- Glycosyl transferase family 8
- glycosyltransferase family A
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- glycogen storage disease type XV
- polyglucosan body myopathy type 2
- pervasive developmental disorder
- severe acute respiratory syndrome
- dementia
- glycogen storage disease type II
- glycogen storage disease
- septic shock
regulates
- glycogen
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
- secretory granule lumen
- ficolin-1-rich granule lumen
- Extracellular Space
- cytosol
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GYG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycogen biosynthetic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- cytosol
- secretory granule lumen
- lysosomal lumen
- extracellular region
Molecular Function
What the gene product does at the molecular level
- transferase activity, transferring glycosyl groups
- protein homodimerization activity
- protein binding
- glycogenin glucosyltransferase activity
- manganese ion binding