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Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005097 Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_005097.2, 171846229
Length 2366 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.
Product leucine-rich glioma-inactivated protein 1 precursor
Comment

Summary: 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].

RefSeq NP_005088.1
CDS 337..2010
Misc Feature(1)211..213
Misc Feature(2)610..789
Misc Feature(3)610..675
Misc Feature(4)682..747
Misc Feature(5)748..819
Misc Feature(6)754..819
Misc Feature(7)853..999
Misc Feature(8)1006..1137
Misc Feature(9)1006..1137
Misc Feature(10)1144..1275
Misc Feature(11)1144..1275
Misc Feature(12)1282..1428
Misc Feature(13)1282..1428
Misc Feature(14)1429..1581
Misc Feature(15)1429..1578
Misc Feature(16)1588..1722
Misc Feature(17)1588..1722
Misc Feature(18)1723..1854
Misc Feature(19)1723..1854
Misc Feature(20)1861..1992
Misc Feature(21)1864..1983
Exon (1)1..551
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (2)552..623
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (3)624..695
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (4)696..767
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (5)768..839
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (6)840..1009
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (7)1010..1174
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Exon (8)1175..2366
Gene:LGI1
Gene Synonym:ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Translation MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARS IPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYL FIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFKGLDSLTNVDLRGNSFNCDCK LKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITEFAKSQDLPYQSLSID TFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVA QLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIY KWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLF TNQTDIPNMEDVYAVKHFSVKGDVYICLTRFIGDSKVMKWGGSSFQDIQRMPSRGSMVFQ PLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSFTHVSINKRNFLFASS FKGNTQIYKHVIVDLSA
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Position Chain Variation Link
57+dbSNP:
57+c, gdbSNP:74150339
110+c, tdbSNP:150194814
196+a, c, tdbSNP:112058882
330+a, cdbSNP:200602449
337+a, gdbSNP:202204627
411+c, tdbSNP:144700062
472+c, tdbSNP:104894166
541+a, gdbSNP:147469708
591+dbSNP:
591+a, gdbSNP:146224088
606+a, gdbSNP:139862877
646+dbSNP:
646+a, gdbSNP:145675377
681+a, gdbSNP:151104648
701+dbSNP:
701+a, tdbSNP:119488100
729+a, gdbSNP:199548601
742+c, tdbSNP:119488099
822+dbSNP:
822+a, gdbSNP:139908142
924+dbSNP:
924+a, gdbSNP:149816434
927+c, tdbSNP:145800952
936+c, tdbSNP:148862146
993+c, tdbSNP:1111820
1020+dbSNP:
1020+g, tdbSNP:34490025
1031+c, tdbSNP:104894167
1053+a, cdbSNP:146425212
1080+a, gdbSNP:199916185
1148+c, tdbSNP:140752487
1207+dbSNP:
1207+a, tdbSNP:201081122
1209+c, tdbSNP:201947344
1289+g, tdbSNP:28939075
1355+c, tdbSNP:80194159
1402+c, tdbSNP:144905465
1411+a, gdbSNP:148263562
1417+a, cdbSNP:141334842
1442+c, tdbSNP:150357603
1458+c, tdbSNP:150515718
1484+a, cdbSNP:28937874
1491+a, cdbSNP:202148793
1505+c, tdbSNP:143152317
1556+a, gdbSNP:201376381
1621+a, gdbSNP:147473519
1626+a, gdbSNP:139879036
1635+c, tdbSNP:113679880
1652+c, tdbSNP:143808356
1654+a, gdbSNP:144400448
1728+a, gdbSNP:148804268
1917+c, tdbSNP:200329963
1925+c, tdbSNP:200600330
2061+a, gdbSNP:185233213
2225+c, tdbSNP:17502662
2348+a, gdbSNP:182654305
Gene SymbolLGI1
Gene SynonymADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT; ETL1; IB1099
Chromosome10
Locus Map10q24
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_005097 Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. In-stock $509.00 $460.00 12
Title Insights from LGI1 and CASPR2 potassium channel complex autoantibody subtyping .
Author Klein,C.J., Lennon,V.A., Aston,P.A., McKeon,A., O'Toole,O., Quek,A. and Pittock,S.J.
Journal JAMA Neurol 70 (2), 229-234 (2013)
Title Immunotherapy-responsive chorea as the presenting feature of LGI1-antibody encephalitis .
Author Tofaris,G.K., Irani,S.R., Cheeran,B.J., Baker,I.W., Cader,Z.M. and Vincent,A.
Journal Neurology 79 (2), 195-196 (2012)
Title LGI1 microdeletion in autosomal dominant lateral temporal epilepsy .
Author Fanciulli,M., Santulli,L., Errichiello,L., Barozzi,C., Tomasi,L., Rigon,L., Cubeddu,T., de Falco,A., Rampazzo,A., Michelucci,R., Uzzau,S., Striano,S., de Falco,F.A., Striano,P. and Nobile,C.
Journal Neurology 78 (17), 1299-1303 (2012)
Title Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF .
Author Ho,Y.Y., Ionita-Laza,I. and Ottman,R.
Journal Neurology 78 (8), 563-568 (2012)
Title Mutant LGI1 inhibits seizure-induced trafficking of Kv4.2 potassium channels .
Author Smith,S.E., Xu,L., Kasten,M.R. and Anderson,M.P.
Journal J. Neurochem. 120 (4), 611-621 (2012)
Title A common protein interaction domain links two recently identified epilepsy genes .
Author Scheel,H., Tomiuk,S. and Hofmann,K.
Journal Hum. Mol. Genet. 11 (15), 1757-1762 (2002)
Title Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy .
Author Morante-Redolat,J.M., Gorostidi-Pagola,A., Piquer-Sirerol,S., Saenz,A., Poza,J.J., Galan,J., Gesk,S., Sarafidou,T., Mautner,V.F., Binelli,S., Staub,E., Hinzmann,B., French,L., Prud'homme,J.F., Passarelli,D., Scannapieco,P., Tassinari,C.A., Avanzini,G., Marti-Masso,J.F., Kluwe,L., Deloukas,P., Moschonas,N.K., Michelucci,R., Siebert,R., Nobile,C., Perez-Tur,J. and Lopez de Munain,A.
Journal Hum. Mol. Genet. 11 (9), 1119-1128 (2002)
Title Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features .
Author 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,A.H., Pedley,T.A., Hauser,W.A., Ottman,R. and Gilliam,T.C.
Journal Nat. Genet. 30 (3), 335-341 (2002)
Title A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors .
Author Chernova,O.B., Somerville,R.P. and Cowell,J.K.
Journal Oncogene 17 (22), 2873-2881 (1998)
Title Localization of a gene for partial epilepsy to chromosome 10q .
Author Ottman,R., Risch,N., Hauser,W.A., Pedley,T.A., Lee,J.H., Barker-Cummings,C., Lustenberger,A., Nagle,K.J., Lee,K.S., Scheuer,M.L. et al.
Journal Nat. Genet. 10 (1), 56-60 (1995)


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