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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
    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
    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
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Nervousbrainlimbic systemhippocampus  
     brainforebraincerebral cortex   Homo sapiens
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    at STAGE
  • 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
    interspecies homolog to C.elegans F58g11.1B
  • LGI family
  • CATEGORY adhesion , regulatory
        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
    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
    small molecule
  • 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
    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
    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
    Therapy target can reduce cellular invasion and, as a secreted agent, may be developed as a means of treating metastatic cancer