LGI1
Leucine-rich, glioma inactivated 1 | |||||||||
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Identifiers | |||||||||
Symbols | LGI1 ; EPT; ETL1; IB1099 | ||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 3737 | ||||||||
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RNA expression pattern | |||||||||
File:PBB GE LGI1 206349 at tn.png | |||||||||
More reference expression data | |||||||||
Orthologs | |||||||||
Template:GNF Ortholog box | |||||||||
Species | Human | Mouse | |||||||
Entrez | n/a | n/a | |||||||
Ensembl | n/a | n/a | |||||||
UniProt | n/a | n/a | |||||||
RefSeq (mRNA) | n/a | n/a | |||||||
RefSeq (protein) | n/a | n/a | |||||||
Location (UCSC) | n/a | n/a | |||||||
PubMed search | n/a | n/a |
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]
References
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 Check
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value (help). 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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