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Aliases for LGI1 Gene

Aliases for LGI1 Gene

  • Leucine-Rich, Glioma Inactivated 1 2 3
  • EPT 3 4 6
  • Epitempin-1 3 4
  • ADPEAF 3 6
  • ADLTE 3 6
  • ETL1 3 6
  • Leucine-Rich Glioma-Inactivated Protein 1 3
  • Epilepsy, Partial 2
  • EPITEMPIN 3
  • ADPAEF 3
  • IB1099 3

External Ids for LGI1 Gene

Previous HGNC Symbols for LGI1 Gene

  • EPT

Previous GeneCards Identifiers for LGI1 Gene

  • GC10P094410
  • GC10P094751
  • GC10P095648
  • GC10P095182
  • GC10P095507
  • GC10P089145

Summaries for LGI1 Gene

Entrez Gene Summary for LGI1 Gene

  • This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq, Jul 2008]

GeneCards Summary for LGI1 Gene

LGI1 (Leucine-Rich, Glioma Inactivated 1) is a Protein Coding gene. Diseases associated with LGI1 include epilepsy, familial temporal lobe, 1 and autosomal dominant partial epilepsy with auditory features. GO annotations related to this gene include receptor binding. An important paralog of this gene is LGI4.

UniProtKB/Swiss-Prot for LGI1 Gene

  • 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.

Gene Wiki entry for LGI1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LGI1 Gene

Genomics for LGI1 Gene

Regulatory Elements for LGI1 Gene

Genomic Location for LGI1 Gene

Start:
93,757,809 bp from pter
End:
93,798,159 bp from pter
Size:
40,351 bases
Orientation:
Plus strand

Genomic View for LGI1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LGI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LGI1 Gene

Proteins for LGI1 Gene

  • Protein details for LGI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95970-LGI1_HUMAN
    Recommended name:
    Leucine-rich glioma-inactivated protein 1
    Protein Accession:
    O95970
    Secondary Accessions:
    • A8K0Z1
    • B4E1S0
    • Q5W001
    • Q5W002
    • Q8NI23
    • Q96LF5

    Protein attributes for LGI1 Gene

    Size:
    557 amino acids
    Molecular mass:
    63818 Da
    Quaternary structure:
    • Oligomer. Interacts with KCNA1 within a complex containing KCNA1, KCNA4 and KCNAB1. Part of a complex containing ADAM22, DLG4/PSD95 and CACNG2 (stargazin). Can bind to ADAM11 and ADAM23.

    Alternative splice isoforms for LGI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LGI1 Gene

Proteomics data for LGI1 Gene at MOPED

Post-translational modifications for LGI1 Gene

Other Protein References for LGI1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LGI1 Gene

Domains for LGI1 Gene

Suggested Antigen Peptide Sequences for LGI1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95970

UniProtKB/Swiss-Prot:

LGI1_HUMAN :
  • O95970
Domain:
  • Contains 1 LRRCT domain.
  • Contains 1 LRRNT domain.
Similarity:
  • Contains 7 EAR repeats.
  • Contains 3 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LGI1: view

No data available for Gene Families for LGI1 Gene

Function for LGI1 Gene

Molecular function for LGI1 Gene

GENATLAS Biochemistry: leucine-rich,glioma inactivated 1,rearranged in glioblastoma cell line t(10;19)(q24;q13),potential adhesion protein,expressed in the brain
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Down-regulated in neuroblastoma cells.

Gene Ontology (GO) - Molecular Function for LGI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 NOT receptor binding IPI 20463223
GO:0005515 protein binding IPI 20463223
genes like me logo Genes that share ontologies with LGI1: view
genes like me logo Genes that share phenotypes with LGI1: view

Animal Models for LGI1 Gene

MGI Knock Outs for LGI1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for LGI1 Gene

Localization for LGI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LGI1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LGI1 Gene COMPARTMENTS Subcellular localization image for LGI1 gene
Compartment Confidence
extracellular 5
cytosol 1
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for LGI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 17067999
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with LGI1: view

Pathways for LGI1 Gene

SuperPathways for LGI1 Gene

No Data Available

Interacting Proteins for LGI1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360472%0d%0a9606.ENSP00000265727%0d%0a9606.ENSP00000293813%0d%0a
Selected Interacting proteins: ENSP00000360472 O95970-LGI1_HUMAN for LGI1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for LGI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 9879993
GO:0007411 axon guidance IMP 20463223
GO:0008283 cell proliferation TAS 9879993
GO:0030307 positive regulation of cell growth IMP 20463223
GO:0031175 neuron projection development IMP 20463223
genes like me logo Genes that share ontologies with LGI1: view

No data available for Pathways by source for LGI1 Gene

Compounds for LGI1 Gene

(2) Novoseek inferred chemical compound relationships for LGI1 Gene

Compound -log(P) Hits PubMed IDs
potassium 18.6 1
sodium 8.36 1
genes like me logo Genes that share compounds with LGI1: view

Transcripts for LGI1 Gene

Unigene Clusters for LGI1 Gene

Leucine-rich, glioma inactivated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LGI1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LGI1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8
SP1: - - -
SP2: - -
SP3:
SP4: -

Relevant External Links for LGI1 Gene

GeneLoc Exon Structure for
LGI1
ECgene alternative splicing isoforms for
LGI1

Expression for LGI1 Gene

mRNA expression in normal human tissues for LGI1 Gene

mRNA differential expression in normal tissues according to GTEx for LGI1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (6.1), Brain - Nucleus accumbens (basal ganglia) (5.8), Brain - Putamen (basal ganglia) (5.8), Brain - Frontal Cortex (BA9) (4.7), Brain - Anterior cingulate cortex (BA24) (4.3), and Brain - Cerebellar Hemisphere (4.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for LGI1 Gene

SOURCE GeneReport for Unigene cluster for LGI1 Gene Hs.533670

mRNA Expression by UniProt/SwissProt for LGI1 Gene

O95970-LGI1_HUMAN
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 hippocampus; higher amounts are observed in the parietal and frontal cortices, putamen, and, particularly, in the temporal neocortex, where it is 3.5 times more abundant than in the hippocampus (at protein level). Isoform 3 shows the highest expression in the occipital cortex and the lowest in the hippocampus (at protein level).
genes like me logo Genes that share expressions with LGI1: view

In Situ Assay Products

Orthologs for LGI1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LGI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LGI1 35
  • 99.88 (n)
  • 99.82 (a)
LGI1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 97 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
LGI1 35
  • 95 (n)
  • 98.87 (a)
dog
(Canis familiaris)
Mammalia LGI1 35
  • 96.23 (n)
  • 99.28 (a)
LGI1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lgi1 35
  • 91.92 (n)
  • 96.95 (a)
Lgi1 16
Lgi1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LGI1 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lgi1 35
  • 91.98 (n)
  • 96.95 (a)
chicken
(Gallus gallus)
Aves LGI1 35
  • 82.76 (n)
  • 88.02 (a)
LGI1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LGI1 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18425 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lgi1 35
  • 76.6 (n)
  • 84.04 (a)
Str.15508 35
zebrafish
(Danio rerio)
Actinopterygii lgi1a 36
  • 66 (a)
OneToMany
lgi1b 35
  • 66.61 (n)
  • 69.06 (a)
lgi1b 36
  • 70 (a)
OneToMany
wufb78h12 35
Species with no ortholog for LGI1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LGI1 Gene

ENSEMBL:
Gene Tree for LGI1 (if available)
TreeFam:
Gene Tree for LGI1 (if available)

Paralogs for LGI1 Gene

Paralogs for LGI1 Gene

Selected SIMAP similar genes for LGI1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LGI1: view

Variants for LGI1 Gene

Sequence variations from dbSNP and Humsavar for LGI1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs864896 -- 93,775,765(-) AATAG(C/T)TTCCA intron-variant
rs1002303 -- 93,795,406(+) cagaa(A/G)ggcaa intron-variant
rs1057175 -- 93,792,194(+) TTATG(A/T)CATCT intron-variant
rs1108877 -- 93,793,168(+) CTTAT(C/T)ATTTC intron-variant
rs1111820 -- 93,792,896(+) GATTT(C/T)GATTG synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for LGI1 Gene

Variant ID Type Subtype PubMed ID
esv3643 CNV Deletion 18987735
nsv511446 CNV Loss 21212237
nsv512177 CNV Loss 21212237
esv2739662 CNV Deletion 23290073
esv8599 CNV Loss 19470904
esv24084 CNV Gain 19812545
nsv821312 CNV Deletion 20802225
nsv825523 CNV Loss 20364138
nsv825524 CNV Loss 20364138
esv2663672 CNV Deletion 23128226

Relevant External Links for LGI1 Gene

HapMap Linkage Disequilibrium report
LGI1
Human Gene Mutation Database (HGMD)
LGI1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LGI1 Gene

Disorders for LGI1 Gene

(1) OMIM Diseases for LGI1 Gene (604619)

UniProtKB/Swiss-Prot

LGI1_HUMAN
  • 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. {ECO:0000269 PubMed:11810107, ECO:0000269 PubMed:12205652, ECO:0000269 PubMed:12601709, ECO:0000269 PubMed:12771268, ECO:0000269 PubMed:15079010, ECO:0000269 PubMed:17296837, ECO:0000269 PubMed:17562837, ECO:0000269 PubMed:18625862, ECO:0000269 PubMed:19552651}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(14) Novoseek inferred disease relationships for LGI1 Gene

Disease -log(P) Hits PubMed IDs
adpeaf 99.1 47
epilepsy lateral temporal 98.6 19
epilepsies partial 80.7 20
epilepsy temporal lobe 77.1 15
seizures febrile 72.9 4

Relevant External Links for LGI1

GeneTests
LGI1
GeneReviews
LGI1
Genetic Association Database (GAD)
LGI1
Human Genome Epidemiology (HuGE) Navigator
LGI1
genes like me logo Genes that share disorders with LGI1: view

Publications for LGI1 Gene

  1. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. (PMID: 9879993) Chernova O.B. … Cowell J.K. (Oncogene 1998) 2 3 4 23
  2. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. (PMID: 11978770) Morante-Redolat J.M. … Lopez de Munain A. (Hum. Mol. Genet. 2002) 2 3 4 23
  3. LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures. (PMID: 12205652) Gu W. … Steinlein O.K. (Ann. Neurol. 2002) 3 4 23
  4. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. (PMID: 12771268) Fertig E. … Hisama F.M. (Neurology 2003) 3 4 23
  5. LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway. (PMID: 15047712) Kunapuli P. … Cowell J.K. (J. Biol. Chem. 2004) 3 4 23

Products for LGI1 Gene

Sources for LGI1 Gene

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