Gene content
Symbol	LGI1 ( by HUGO)
Name	Leucine-Rich, Glioma Inactivated 1
Category	Tumor suppressor gene
Alias	Leucine-Rich Glioma Inactivated 1 EPT ADLTE ADPEAF ETL1 Epilepsy Partial ADPAEF EPITEMPIN IB1099 epitempin-1 Leucine-Rich Glioma-Inactivated Protein 1 Epitempin-1
Cytogenetic band	NCBI: 10q24    Ensembl: 10q23.33
Protein information	LGI1_HUMAN Size: 557 amino acids Mass: 63818 Da Subunit: Oligomer (By similarity). Interacts with KCNA1 within a complex containing KCNA1, KCNA4 and KCNAB1 (By similarity). Part of a complex containing ADAM22, DLG4/PSD95 and CACNG2 (stargazin) (By similarity). Can bind to ADAM11 and ADAM23 (By similarity) Tissue specificity: Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas. Isoform 1 is absent in the cerebellum and is detectable in the occipital cortex and h Function: UniProtKB/Swiss-Prot Summary: LGI1_HUMAN, O95970 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 Similarity: Contains 7 EAR repeats                        Contains 3 LRR (leucine-rich) repeats                        Contains 1 LRRCT domain                        Contains 1 LRRNT domain [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR000372	LRR-contain_N	Cysteine-rich flanking region, N-terminal	Domain
	IPR000483	Cys-rich_flank_reg_C	Cysteine-rich flanking region, C-terminal	Domain
	IPR003591	Leu-rich_rpt_typical-subtyp	Leucine-rich repeat, typical subtype	Repeat
	IPR005492	EPTP	EPTP	Domain
	IPR009039	EAR	EAR	Repeat
Blocks	IPB000372	Cysteine-rich flanking region	Cysteine-rich flanking region, N-terminal
	IPB000483	Cysteine-rich flanking region	Cysteine-rich flanking region, C-terminal

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	cell proliferation	TAS	GOA	9879993
	nervous system development	TAS	GOA	9879993
Cellular Component	extracellular space	IDA	GOA	17067999

Disorder & Mutation
Source	Disease
SWISS-PROT	Epilepsy, familial temporal lobe, 1 (ETL1) [MIM:600512]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry

LGI1 cross reference
PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene