EPM2AIP1 Gene Summary [Human]
The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | EPM2AIP1 |
| Official Name | EPM2A interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:19735] |
| Ensembl ID | ENSG00000178567 |
| Bio databases IDs | |
| Aliases | EPM2A interacting protein 1, laforin interacting protein 1 |
| Synonyms | A930003G21Rik,EPM2A interacting protein 1,mKIAA0766 |
| Species | Human, Homo sapiens |
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 EPM2AIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain of unknown function (DUF4371)
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Nucleus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPM2AIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycogen biosynthetic process
- response to insulin stimulus
- positive regulation of glycogen biosynthetic process
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding