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FLASH GENE
Symbol LGI1 contributors: mct - updated : 02-07-2015
HGNC name leucine-rich, glioma inactivated 1
HGNC id 6572
Corresponding disease
EPT lateral temporal lobe epilepsy, partial
Location 10q23.33      Physical location : 95.517.565 - 95.557.915
Synonym name
  • epitempin
  • autosomal dominant partial epilepsy with auditory features (ADPEAF)
  • Synonym symbol(s) IB1099, KIAA1916, ETL1, EPITEMPIN, ADLTE, ADPAEF, ADPEAF, EPT
    DNA
    TYPE functioning gene
    STRUCTURE 40.35 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    motif repetitive sequence   other
    text structure two SNP and a highly polymorphic intragenic microsatellite repeat
    MAPPING cloned N linked N status provisional
    Physical map
    LOC387702 10 similar to hypothetical protein FLJ25224 PPP1R3C 10q23-q24 protein phosphatase 1, regulatory (inhibitor) subunit 3C LOC389995 10 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) TNKS2 10q23.3 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 C10orf13 10q23.33 chromosome 10 open reading frame 13 BTAF1 10q22-q23 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) CPEB3 10q23.33 cytoplasmic polyadenylation element binding protein 3 FLJ20445 10q23.33 hypothetical protein FLJ20445 LOC389996 10 similar to MAP/microtubule affinity-regulating kinase 2 isoform a; ELKL motif kinase 1; ELKL motif kinase IDE 10q24 insulin-degrading enzyme KIF11 10q24.1 kinesin family member 11 LOC283014 10q23.33 similar to eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa; eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD ); eukaryotic initiation factor 2-beta HHEX 10q24 hematopoietically expressed homeobox SEC15L1 10q23.33 SEC15-like 1 (S. cerevisiae) CYP26C1 10q23.33 cytochrome P450, family 26, subfamily C, polypeptide 1 CYP26A1 10q23-q24 cytochrome P450, family 26, subfamily A, polypeptide 1 LOC389997 10 similar to Saccharomyces cerevisiae Nip7p homolog LOC387703 10 similar to ATP-dependent DNA helicase II, 70 kDa subunit (Lupus Ku autoantigen protein p70) (Ku70) (70 kDa subunit of Ku antigen) (Thyroid-lupus autoantigen) (TLAA) (CTC box binding factor 75 kDa subunit) (CTCBF) (CTC75) LOC389998 10 similar to 60S ribosomal protein L17 (L23) FER1L3 10q23.3 fer-1-like 3, myoferlin (C. elegans) C10orf3 10q23.33 chromosome 10 open reading frame 3 GPR120 10q23.33 G protein-coupled receptor 120 RBP4 10q24 retinol binding protein 4, plasma PDE6C 10q24 phosphodiesterase 6C, cGMP-specific, cone, alpha prime C10orf4 10q23.33 chromosome 10 open reading frame 4 LGI1 10q24 leucine-rich, glioma inactivated 1 FLJ33990 10q23.33 hypothetical protein FLJ33990 PSMD4P2 10q23.33 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2 PLCE1 10q23 phospholipase C, epsilon 1 AD24 10q23.33 AD24 protein KIAA0608 10q23.33 KIAA0608 protein HELLS 10q23-q24 helicase, lymphoid-specific CYP2C18 10q24 cytochrome P450, family 2, subfamily C, polypeptide 18 CYP2C19 10q24 cytochrome P450, family 2, subfamily C, polypeptide 19 CYP2C9 10q24.1 cytochrome P450, family 2, subfamily C, polypeptide 9 CYP2C8 10q23.33 cytochrome P450, family 2, subfamily C, polypeptide 8 LOC387705 10 LOC387705 LOC142827 10q24.1 similar to Hypothetical protein MGC56918 PDLIM1 10q22-q26.3 PDZ and LIM domain 1 (elfin) SORBS1 10q23.3-q24.1 sorbin and SH3 domain containing 1 LOC389999 10 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 PYCS 10q24.3 pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) DKFZP564D116 10q24.1 DKFZP564D116 protein ENTPD1 10q24 ectonucleoside triphosphate diphosphohydrolase 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2366 64 557 much higher in the lateral temporal cortex than in the hippocampus 2006 16787412
    - - 1612 - 291 - 2006 16787412
    - - 2249 60 509 - 2006 16787412
    more expressed in the temporal neocortex than in the hippocampus
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Nervousbrainlimbic systemhippocampus  
     brainforebraincerebral cortex   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • N-terminal half of the protein consists of 3.5 leucine-rich repeat (LRR) sequences flanked on both sides by typical cysteine-rich repeat sequence clusters and one putative transmembrane segment, and the LRR region of the LGI1 gene is likely to play a major role in pathogenesis of EPT
  • EAR repeats (epilepsy associated repeats at the C terminus), with seven copies of a novel repeat of about 45 residues, named epitempin
  • HOMOLOGY
    interspecies homolog to C.elegans F58g11.1B
    Homologene
    FAMILY
  • LGI family
  • CATEGORY adhesion , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction
    text localizes to glutamatergic synapses
    basic FUNCTION
  • may be involved in the formation and progression of glioblastoma multiformis
  • may have a physiologic function connected to the capacity for speech and language
  • coordinates the functional maturation of both pre- and postsynaptic properties during postnatal brain development, and also mediates a structural remodeling of the apical dendrite branches and spines
  • regulated the functional maturation and structural pruning of glutamatergic synapses during postnatal development
  • acts to remodel the hippocampal dentate glutamatergic circuitry
  • regulates postnatal pruning of retinal axons in visual relay thalamus 8)
  • LGI1, LGI2, TSPEAR, ADGRV1 all have indispensable roles only in the peripheral and central auditory system, it is tempting to speculate that they are involved in similar molecular pathways
  • by finely regulating the synaptic AMPA receptors, the LGI1-ADAM22 interaction maintains likely physiological brain excitability throughout life
  • prevents the inactivation of voltage-gated potassium channels, mediates postnatal maturation of glutamatergic synapses, and regulates excitatory neurotransmission
  • is involved in the development of the cerebellum and cortex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms a protein complex with the ADAM22/23 cell adhesion/receptor protein which when mutated results in seizures
  • LGI1 and ADAM22 form an essential synaptic organizing complex that coordinates the maturation of excitatory synapses by regulating the functional incorporation of DLG4
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ADAM22 (acts as a ligand that selectively binds to the postsynaptic receptor ADAM22, thereby regulating the glutamate-AMPA neurotransmission)
  • binds a disintegrin and metalloproteinase domains 22 and 23 (ADAM22 and ADAM23), to promote glutamatergic synapse maturation and pruning
  • binds ADAM11, ADAM22, ADAM23 (LGI-ADAM system seems to be regulated not only by the affinity but also by the cell-type-specific expression of each protein)
  • bind ADAM22 through its EPTP domains
  • link between RELN and LGI1, which play key regulatory roles in both the developing and adult brain
  • critical roles of a ligand-receptor complex, LGI1-ADAM22, in synaptic transmission and brain function
  • cell & other bind on the surface of neuronal cells and affect sodium channel functioning
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocation t(10;19)(q24;q13)in glioblastoma cell lines
    tumoral     --low  
    in low grade brain tumors
    tumoral        
    loss of LGI1 is an important event in the progression of gliomas that leads to a more invasive phenotype
    Susceptibility to familial forms of temporal lobe epilepsy
    Variant & Polymorphism other polymorphisms increasing the risk of temporal lobe epilepsy
    Candidate gene
    Marker
    Therapy target can reduce cellular invasion and, as a secreted agent, may be developed as a means of treating metastatic cancer
    ANIMAL & CELL MODELS