LGI1
LGI1 (leucine rich glioma inactivated 1, also known as epitempin, EPT, ETL1 and IB1099) is a secreted leucine-rich repeat protein that regulates voltage-gated potassium channels and synaptic transmission. Mutations in the LGI1 gene cause autosomal dominant lateral temporal epilepsy. Browse Assay Genie's current range of LGI1 research reagents below, or read on for the biology behind the target.
LGI1 regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows channel inactivation by precluding the channel closure mediated by the KCNAB1 subunit. LGI1 also acts as a ligand for ADAM22, and through this interaction it positively regulates synaptic transmission mediated by AMPA-type glutamate receptors. In addition, it has a role in suppressing production of MMP1 and MMP3 through the phosphatidylinositol 3-kinase/ERK pathway.
The LGI1 protein is a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with the SLIT protein family. UniProt records it as secreted and at the synapse, and also in the cytoplasm, Golgi apparatus and endoplasmic reticulum. The mouse and rat orthologs are both named Lgi1. The human LGI1 gene belongs to the HGNC LGI family, and alternative splicing produces multiple transcript variants. NCBI Gene notes that the protein may be involved in neuronal growth regulation and cell survival.
The gene was first noted for its involvement in cancer: it is rearranged by translocations in glioblastoma cell lines and is frequently down-regulated or rearranged in malignant gliomas, which gave rise to the name glioma inactivated. Mutations in LGI1 result in autosomal dominant lateral temporal epilepsy, which explains the earlier gene name epilepsy, partial, and the aliases epitempin and EPT. This combination of neuronal and tumour-related roles makes LGI1 a useful target for neuroscience and cancer research.
Mutations in LGI1 cause autosomal dominant lateral temporal epilepsy, making it a key gene for studying inherited partial epilepsy.
LGI1 is a ligand for ADAM22 and positively regulates AMPA-type glutamate receptor-mediated synaptic transmission.
LGI1 regulates channels containing KCNA1, KCNA4 and KCNAB1 by slowing inactivation and blocking KCNAB1-mediated closure.
LGI1 is rearranged in glioblastoma cell lines and frequently down-regulated or rearranged in malignant gliomas.
LGI1 is a secreted protein that regulates voltage-gated potassium channels containing KCNA1, KCNA4 and KCNAB1, slowing their inactivation. It is also a ligand for ADAM22 and positively regulates AMPA receptor-mediated synaptic transmission. It additionally suppresses MMP1 and MMP3 production through the PI3K/ERK pathway.
LGI1 is also known as epitempin, EPT, ETL1 and IB1099. The previous gene name was epilepsy, partial. The UniProt protein name is leucine-rich glioma-inactivated protein 1. NCBI Gene reports that alternative splicing gives multiple transcript variants.
Mutations in LGI1 result in autosomal dominant lateral temporal epilepsy. The gene is also rearranged by translocations in glioblastoma cell lines and is frequently down-regulated or rearranged in malignant gliomas. Mouse and rat both carry an Lgi1 ortholog; check the datasheet of any product for its validated reactivity.
Other LGI family members and related targets in neuronal signalling with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O95970; product specifications from Assay Genie datasheets.