LGI1

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Leucine-rich, glioma inactivated 1
Identifiers
Symbol(s) LGI1; EPT; ETL1; IB1099
External IDs OMIM: 604619 MGI: 1861691 HomoloGene: 3737
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 9211 56839
Ensembl ENSG00000108231 ENSMUSG00000067242
Uniprot O95970 Q9JIA1
Refseq NM_005097 (mRNA)
NP_005088 (protein)		 NM_020278 (mRNA)
NP_064674 (protein)
Location Chr 10: 95.51 - 95.55 Mb Chr 19: 38.33 - 38.37 Mb
Pubmed search [1] [2]

Leucine-rich, glioma inactivated 1, also known as LGI1, is a human gene.[1] It may be a metastasis suppressor.

The leucine-rich glioma inactivated -1 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.[1]

[edit] References

  1. ^ a b Entrez Gene: LGI1 leucine-rich, glioma inactivated 1.

[edit] Further reading

  • Staub E, Pérez-Tur J, Siebert R, et al. (2002). "The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.". Trends Biochem. Sci. 27 (9): 441–4. PMID 12217514. 
  • Gu W, Brodtkorb E, Piepoli T, et al. (2005). "LGI1: a gene involved in epileptogenesis and glioma progression?". Neurogenetics 6 (2): 59–66. doi:10.1007/s10048-005-0216-5. PMID 15827762. 
  • Ottman R, Risch N, Hauser WA, et al. (1995). "Localization of a gene for partial epilepsy to chromosome 10q.". Nat. Genet. 10 (1): 56–60. doi:10.1038/ng0595-56. PMID 7647791. 
  • Chernova OB, Somerville RP, Cowell JK (1999). "A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors.". Oncogene 17 (22): 2873–81. doi:10.1038/sj.onc.1202481. PMID 9879993. 
  • Kalachikov S, Evgrafov O, Ross B, et al. (2002). "Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.". Nat. Genet. 30 (3): 335–41. doi:10.1038/ng832. PMID 11810107. 
  • Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, et al. (2002). "Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.". Hum. Mol. Genet. 11 (9): 1119–28. PMID 11978770. 
  • Scheel H, Tomiuk S, Hofmann K (2003). "A common protein interaction domain links two recently identified epilepsy genes.". Hum. Mol. Genet. 11 (15): 1757–62. PMID 12095917. 
  • Gu W, Brodtkorb E, Steinlein OK (2002). "LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.". Ann. Neurol. 52 (3): 364–7. doi:10.1002/ana.10280. PMID 12205652. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Pizzuti A, Flex E, Di Bonaventura C, et al. (2003). "Epilepsy with auditory features: an LGI1 gene mutation suggests a loss-of-function mechanism.". Ann. Neurol. 53 (3): 396–9. doi:10.1002/ana.10492. PMID 12601709. 
  • Fertig E, Lincoln A, Martinuzzi A, et al. (2004). "Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.". Neurology 60 (10): 1687–90. PMID 12771268. 
  • Kunapuli P, Chitta KS, Cowell JK (2003). "Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene.". Oncogene 22 (26): 3985–91. doi:10.1038/sj.onc.1206584. PMID 12821932. 
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309. 
  • Hedera P, Abou-Khalil B, Crunk AE, et al. (2004). "Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene.". Epilepsia 45 (3): 218–22. PMID 15009222. 
  • Kunapuli P, Kasyapa CS, Hawthorn L, Cowell JK (2004). "LGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathway.". J. Biol. Chem. 279 (22): 23151–7. doi:10.1074/jbc. M314192200. PMID 15047712. 
  • Berkovic SF, Izzillo P, McMahon JM, et al. (2004). "LGI1 mutations in temporal lobe epilepsies.". Neurology 62 (7): 1115–9. PMID 15079010. 
  • Ottman R, Winawer MR, Kalachikov S, et al. (2004). "LGI1 mutations in autosomal dominant partial epilepsy with auditory features.". Neurology 62 (7): 1120–6. PMID 15079011. 
  • Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10.". Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054. 
  • Bisulli F, Tinuper P, Scudellaro E, et al. (2004). "A de novo LGI1 mutation in sporadic partial epilepsy with auditory features.". Ann. Neurol. 56 (3): 455–6. doi:10.1002/ana.20218. PMID 15349881. 
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