LGI1 Gene Summary [Human]
This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | LGI1 |
| Official Name | leucine rich glioma inactivated 1 [Source:HGNC Symbol;Acc:HGNC:6572] |
| Ensembl ID | ENSG00000108231 |
| Bio databases IDs | |
| Aliases | leucine rich glioma inactivated 1, Epitempin-1 |
| Synonyms | ADLTE, ADPAEF, ADPEAF, BB130740, EPITEMPIN, EPT, ETL1, IB1099, leucine rich glioma inactivated 1, leucine-rich, glioma inactivated 1, leucine-rich repeat LGI family, member 1, LOC100361792 |
| 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 LGI1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Leucine-rich repeats, outliers
- Leucine-rich repeats, typical (most populated) subfamily
- leucine-rich repeat
- Leucine rich repeat
- Leucine rich repeat C-terminal domain
- BspA type Leucine rich repeat region (6 copies)
- protein binding
- receptor binding
- Leucine Rich repeats (2 copies)
- EPTP domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant partial epilepsy with auditory features
- akinesia
- encephalitis
- seizures
- tonic-clonic seizure
- environmentally induced seizure
- tonic seizure
- growth failure
- hereditary disorder
- neurodegeneration
role in cell
- expression in
- growth
- pruning
- abnormal morphology
- invasiveness
- excitability
- pruning in
- synaptic transmission
- density
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- axon component
- Cytoplasm
- cell surface
- Extracellular Space
- cellular membrane
- axon initial segments
- synapse
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LGI1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of cell growth
- neuron projection development
- positive regulation of synaptic transmission
- nervous system development
- axon guidance
Cellular Component
Where in the cell the gene product is active
- dendrite
- initial segment
- extracellular space
- synaptic cleft
- cytoplasm
- Golgi apparatus
- endoplasmic reticulum
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- receptor binding