LGI1

LGI1 is 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.

Full Name

LGI1

Function

Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity).
Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway. May play a role in the control of neuroblastoma cell survival.

Biological Process

Axon guidanceManual Assertion Based On ExperimentIMP:DFLAT
Nervous system developmentManual Assertion Based On ExperimentTAS:ProtInc
Neuron projection developmentManual Assertion Based On ExperimentIMP:DFLAT
Neurotransmitter receptor localization to postsynaptic specialization membraneIEA:Ensembl
Positive regulation of cell growthManual Assertion Based On ExperimentIMP:DFLAT
Positive regulation of synaptic transmissionISS:UniProtKB

Cellular Location

Secreted
Cell junction, synapse
Isoform 1 but not isoform 2 is secreted. Isoform 1 is enriched in the Golgi apparatus while isoform 2 accumulates in the endoplasmic reticulum.

Involvement in disease

Epilepsy, familial temporal lobe, 1 (ETL1):
A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.

PTM

Glycosylated.