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LGI1

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LGI1
Identifiers
AliasesLGI1, ADLTE, ADPAEF, ADPEAF, EPITEMPIN, EPT, ETL1, IB1099, leucine-rich, glioma inactivated 1, leucine rich glioma inactivated 1
External IDsOMIM: 604619; MGI: 1861691; HomoloGene: 3737; GeneCards: LGI1; OMA:LGI1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

9211

56839

Ensembl

ENSG00000108231

ENSMUSG00000067242

UniProt

O95970

Q9JIA1

RefSeq (mRNA)

NM_001308275
NM_001308276
NM_005097

NM_020278

RefSeq (protein)

NP_001295204
NP_001295205
NP_005088

NP_064674

Location (UCSC)Chr 10: 93.76 – 93.81 MbChr 19: 38.25 – 38.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Leucine-rich, glioma inactivated 1, also known as LGI1, is a protein which in humans is encoded by the LGI1 gene.[5] It may be a metastasis suppressor.

Function

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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.[5]

Clinical significance

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Since its earliest discovery, the LGI1 gene has been implicated in the control of cancer metastasis and in a predisposition to epilepsy. Following genetic linkage studies placing the hereditary form of autosomal dominant partial epilepsy with auditory features (ADPEAF) on chromosome region 10q24[6][7] mutation analysis of affected members in these families[8][9][10] demonstrated LGI1 was a major cause of the disease.

More recently, LGI1 has been shown to be the major target of human autoantibodies[11][12][13] which immunoprecipitate voltage-gated potassium channel complexes from mammalian brain tissue. LGI1 antibodies are found in patients with limbic encephalitis and in patients with faciobrachial dystonic seizures (FBDS). FBDS are a recently described form of epilepsy which is characterized by frequent, brief seizures which affect the arm and face. They appear to be preferentially responsive to immunotherapy over anti-epileptic drugs.

Interactions

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LGI1 has been shown to interact with ADAM22,[14] and DLG4.[14]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108231 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067242 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: LGI1 leucine-rich, glioma inactivated 1".
  6. ^ Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, Barker-Cummings C, Lustenberger A, Nagle KJ, Lee KS, Scheuer ML (May 1995). "Localization of a gene for partial epilepsy to chromosome 10q". Nature Genetics. 10 (1): 56–60. doi:10.1038/ng0595-56. PMC 2823475. PMID 7647791.
  7. ^ Wilson MH, Puranam RS, Ottman R, Gilliam C, Limbird LE, George AL, McNamara JO (December 1998). "Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy". Neurology. 51 (6): 1730–1. doi:10.1212/wnl.51.6.1730. PMID 9855534. S2CID 85601127.
  8. ^ Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, Martinelli Boneschi F, Choi C, Morozov P, Das K, Teplitskaya E, Yu A, Cayanis E, Penchaszadeh G, Kottmann AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC (March 2002). "Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features". Nature Genetics. 30 (3): 335–41. doi:10.1038/ng832. PMC 2606053. PMID 11810107.
  9. ^ Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA (April 2004). "LGI1 mutations in autosomal dominant partial epilepsy with auditory features". Neurology. 62 (7): 1120–6. doi:10.1212/01.wnl.0000120098.39231.6e. PMC 1361770. PMID 15079011.
  10. ^ Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P (April 2009). "LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy". Human Mutation. 30 (4): 530–6. doi:10.1002/humu.20925. PMID 19191227. S2CID 25089540.
  11. ^ Irani SR, Stagg CJ, Schott JM, Rosenthal CR, Schneider SA, Pettingill P, Pettingill R, Waters P, Thomas A, Voets NL, Cardoso MJ, Cash DM, Manning EN, Lang B, Smith SJ, Vincent A, Johnson MR (October 2013). "Faciobrachial dystonic seizures: the influence of immunotherapy on seizure control and prevention of cognitive impairment in a broadening phenotype". Brain. 136 (Pt 10): 3151–62. doi:10.1093/brain/awt212. PMID 24014519.
  12. ^ Irani SR, Michell AW, Lang B, Pettingill P, Waters P, Johnson MR, Schott JM, Armstrong RJ, S Zagami A, Bleasel A, Somerville ER, Smith SM, Vincent A (May 2011). "Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis". Annals of Neurology. 69 (5): 892–900. doi:10.1002/ana.22307. PMID 21416487. S2CID 13775077.
  13. ^ Irani SR, Alexander S, Waters P, Kleopa KA, Pettingill P, Zuliani L, Peles E, Buckley C, Lang B, Vincent A (September 2010). "Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia". Brain. 133 (9): 2734–48. doi:10.1093/brain/awq213. PMC 2929337. PMID 20663977.
  14. ^ a b Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M (September 2006). "Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission". Science. 313 (5794): 1792–5. Bibcode:2006Sci...313.1792F. doi:10.1126/science.1129947. PMID 16990550. S2CID 33024022.

Further reading

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