LOCUS       NM_005097               2239 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens leucine rich glioma inactivated 1 (LGI1), transcript
            variant 1, mRNA.
ACCESSION   NM_005097
VERSION     NM_005097.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2239)
  AUTHORS   Wang,C., Guo,X., Long,D., Li,Y., Yuan,C., Ni,G., Zhang,H., Li,X.,
            Yin,S., Peng,X., Huang,W., Chen,S., Liu,Y. and Chen,Z.
  TITLE     Familial mesial temporal lobe epilepsy phenotype is associated with
            novel LGI1 variants: A report of two families
  JOURNAL   Seizure 120, 180-188 (2024)
   PUBMED   39029408
  REMARK    GeneRIF: Familial mesial temporal lobe epilepsy phenotype is
            associated with novel LGI1 variants: A report of two families.
REFERENCE   2  (bases 1 to 2239)
  AUTHORS   Ramirez-Franco,J., Debreux,K., Sangiardi,M., Belghazi,M., Kim,Y.,
            Lee,S.H., Leveque,C., Seagar,M. and El Far,O.
  TITLE     The downregulation of Kv1 channels in Lgi1-/-mice is accompanied by
            a profound modification of its interactome and a parallel decrease
            in Kv2 channels
  JOURNAL   Neurobiol Dis 196, 106513 (2024)
   PUBMED   38663634
  REMARK    GeneRIF: The downregulation of Kv1 channels in Lgi1[-/-]mice is
            accompanied by a profound modification of its interactome and a
            parallel decrease in Kv2 channels.
REFERENCE   3  (bases 1 to 2239)
  AUTHORS   Cuhadar,U., Calzado-Reyes,L., Pascual-Caro,C., Aberra,A.S.,
            Ritzau-Jost,A., Aggarwal,A., Ibata,K., Podgorski,K., Yuzaki,M.,
            Geis,C., Hallerman,S., Hoppa,M.B. and de Juan-Sanz,J.
  TITLE     Activity-driven synaptic translocation of LGI1 controls excitatory
            neurotransmission
  JOURNAL   Cell Rep 43 (5), 114186 (2024)
   PUBMED   38700985
  REMARK    GeneRIF: Activity-driven synaptic translocation of LGI1 controls
            excitatory neurotransmission.
REFERENCE   4  (bases 1 to 2239)
  AUTHORS   Goihl,A., Reinhold,D., Reinhold,A., Schraven,B. and Kortvelyessy,P.
  TITLE     Leucine-Rich Glioma-Inactivated 1 (LGI1) Protein Stimulates
            Proliferation and IL-10 Production in Peripheral Blood Mononuclear
            Cells of Patients with LGI1 Antibody-Mediated Autoimmune
            Encephalitis In Vitro
  JOURNAL   Int J Mol Sci 25 (5), 2581 (2024)
   PUBMED   38473828
  REMARK    GeneRIF: Leucine-Rich Glioma-Inactivated 1 (LGI1) Protein
            Stimulates Proliferation and IL-10 Production in Peripheral Blood
            Mononuclear Cells of Patients with LGI1 Antibody-Mediated
            Autoimmune Encephalitis In Vitro.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2239)
  AUTHORS   Zhao-Fleming,H.H., Zahid,A., Lu,T., Sun,X., Pittock,S.J., Lee,H.C.
            and Dubey,D.
  TITLE     Characterization of cardiac bradyarrhythmia associated with
            LGI1-IgG autoimmune encephalitis
  JOURNAL   Front Immunol 13, 948479 (2022)
   PUBMED   36304459
  REMARK    GeneRIF: Characterization of cardiac bradyarrhythmia associated
            with LGI1-IgG autoimmune encephalitis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2239)
  AUTHORS   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.
  TITLE     Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal
            dominant lateral temporal epilepsy
  JOURNAL   Hum Mol Genet 11 (9), 1119-1128 (2002)
   PUBMED   11978770
  REMARK    GeneRIF: Mutations in LGI1 causes autosomal dominant lateral
            temporal epilepsy
REFERENCE   7  (bases 1 to 2239)
  AUTHORS   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.
  TITLE     Mutations in LGI1 cause autosomal-dominant partial epilepsy with
            auditory features
  JOURNAL   Nat Genet 30 (3), 335-341 (2002)
   PUBMED   11810107
  REMARK    GeneRIF: mutations cause autosomal-dominant partial epilepsy with
            auditory features
REFERENCE   8  (bases 1 to 2239)
  AUTHORS   Chernova,O.B., Somerville,R.P. and Cowell,J.K.
  TITLE     A novel gene, LGI1, from 10q24 is rearranged and downregulated in
            malignant brain tumors
  JOURNAL   Oncogene 17 (22), 2873-2881 (1998)
   PUBMED   9879993
REFERENCE   9  (bases 1 to 2239)
  AUTHORS   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.
  TITLE     Localization of a gene for partial epilepsy to chromosome 10q
  JOURNAL   Nat Genet 10 (1), 56-60 (1995)
   PUBMED   7647791
REFERENCE   10 (bases 1 to 2239)
  AUTHORS   Michelucci,R., Pasini,E. and Dazzo,E.
  TITLE     Autosomal Dominant Epilepsy with Auditory Features
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301709
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL157396.9 and AL358154.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_005097.3.
            
            Summary: This gene encodes a member of the secreted leucine-rich
            repeat (LRR) superfamily and shares homology with members of the
            SLIT protein family. The encoded protein may regulate the activity
            of voltage-gated potassium channels and may be involved in neuronal
            growth regulation and cell survival. This gene is rearranged as a
            result of translocations in glioblastoma cell lines, and it is
            frequently down-regulated or rearranged in malignant gliomas.
            Mutations in this gene result in autosomal dominant lateral
            temporal epilepsy. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022500.1, AF055636.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371418.9/ ENSP00000360472.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-424               AL157396.9         110222-110645
            425-496             AL157396.9         111046-111117
            497-568             AL358154.8         969-1040
            569-640             AL358154.8         1136-1207
            641-712             AL358154.8         13689-13760
            713-882             AL358154.8         16333-16502
            883-1047            AL358154.8         16776-16940
            1048-2239           AL358154.8         20558-21749
FEATURES             Location/Qualifiers
     source          1..2239
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.33"
     gene            1..2239
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /note="leucine rich glioma inactivated 1"
                     /db_xref="GeneID:9211"
                     /db_xref="HGNC:HGNC:6572"
                     /db_xref="MIM:604619"
     exon            1..424
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     CDS             210..1883
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; leucine-rich glioma-inactivated protein 1;
                     epitempin-1"
                     /codon_start=1
                     /product="leucine-rich glioma-inactivated protein 1
                     isoform 1 precursor"
                     /protein_id="NP_005088.1"
                     /db_xref="CCDS:CCDS7431.1"
                     /db_xref="GeneID:9211"
                     /db_xref="HGNC:HGNC:6572"
                     /db_xref="MIM:604619"
                     /translation="MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPA
                     VCTCTKDNALCENARSIPRTVPPDVISLSFVRSGFTEISEGSFLFTPSLQLLLFTSNS
                     FDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNNLQTLPKDIFK
                     GLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKD
                     FDCIITEFAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYD
                     NITGTSTVVCKPIVIETQLYVIVAQLFGGSHIYKRDSFANKFIKIQDIEILKIRKPND
                     IETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHAWYRDTDVEYLEIVRTPQ
                     TLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTR
                     FIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEK
                     AKFVKFQELNVQAPRSFTHVSINKRNFLFASSFKGNTQIYKHVIVDLSA"
     exon            425..496
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     exon            497..568
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     exon            569..640
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     exon            641..712
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     exon            713..882
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     exon            883..1047
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..2239
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2213..2218
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /note="hexamer: AATAAA"
     polyA_site      2239
                     /gene="LGI1"
                     /gene_synonym="ADLTE; ADPAEF; ADPEAF; EPITEMPIN; EPT;
                     ETL1; IB1099"
                     /note="major polyA site"
ORIGIN      
        1 acagtacctc acaggtctct tcccccgagc agtgcattgc tggagcgagg agaagctcac
       61 gaatcagctg caggtctctg ttttgaaaaa gcagagatac agaggcagag gaaaagggtg
      121 gactcctatg tgacctgttc ttagagcaag acaatcacca tctgaattcc agaagccctg
      181 ttcatggttg gggatatttt ctcgactgca tggaatcaga aagaagcaaa aggatgggaa
      241 atgcctgcat tcccctgaaa agaattgctt atttcctatg tctcttatct gcgcttttgc
      301 tgactgaggg gaagaaacca gcgaagccaa aatgccctgc cgtgtgtact tgtaccaaag
      361 ataatgcttt atgtgagaat gccagatcca ttccacgcac cgttcctcct gatgttatct
      421 cattatcctt tgtgagatct ggttttactg aaatctcaga agggagtttt ttattcacgc
      481 catcgctgca gctcttgtta ttcacatcga actcctttga tgtgatcagt gatgatgctt
      541 ttattggtct tccacatcta gagtatttat tcatagaaaa caacaacatc aagtcaattt
      601 caagacatac tttccgggga ctaaagtcat taattcactt gagccttgca aacaacaatc
      661 tccagacact cccaaaagat attttcaaag gcctggattc tttaacaaat gtggacctga
      721 ggggtaattc atttaattgt gactgtaaac tgaaatggct agtggaatgg cttggccaca
      781 ccaatgcaac tgttgaagac atctactgcg aaggcccccc agaatacaag aagcgcaaaa
      841 tcaatagtct ctcctcgaag gattttgatt gcatcattac agaatttgca aagtctcaag
      901 acctgcctta tcaatcattg tccatagaca ctttttctta tttgaatgat gagtatgtag
      961 tcatcgctca gccttttact ggaaaatgca ttttccttga atgggaccat gtggaaaaga
     1021 ccttccggaa ttatgacaac attacaggca catccactgt agtatgcaag cctatagtca
     1081 ttgaaactca gctctatgtt attgtggccc agctgtttgg tggctctcac atctataagc
     1141 gagacagttt tgcaaataaa ttcataaaaa tccaggatat tgaaattctc aaaatccgaa
     1201 aacccaatga cattgaaaca ttcaagattg aaaacaactg gtactttgtt gttgctgaca
     1261 gttcaaaagc tggttttact accatttaca aatggaacgg aaacggattc tactcccatc
     1321 aatccttaca cgcgtggtac agggacactg atgtggaata tctagaaata gtcagaacac
     1381 ctcagacact cagaacgcct catttaattc tgtctagtag ttcccagcgt cctgtaattt
     1441 atcagtggaa caaagcaaca caattattca ctaaccaaac tgacattcct aacatggagg
     1501 atgtgtacgc agtgaagcac ttctcagtga aaggggacgt gtacatttgc ttgacaagat
     1561 tcattggtga ttccaaagtc atgaaatggg gaggctcctc gttccaggat attcagagga
     1621 tgccatcgcg aggatccatg gtgttccagc ctcttcaaat aaataattac caatatgcaa
     1681 ttcttggaag tgattactcc tttactcaag tgtataactg ggatgcagag aaagccaaat
     1741 ttgtgaaatt tcaggaatta aatgttcagg caccaagatc attcacacat gtgtccatta
     1801 ataagcgtaa ttttcttttt gcttccagtt ttaagggaaa tacacagatt tacaaacatg
     1861 tcatagttga cttaagcgca tgagacacca aattctgtgg ctgccatcag aaattttcta
     1921 cagtacatga cccggatgaa ctcaatgcat gatgactctt cttatcacac ttgcaaatga
     1981 atgcctttca aacattgaga ctgctagaac caagcactac cagtatctcc atccttaact
     2041 gtccagtcca gtgatgtggg aagttacctt ttataagaca aaatttaatt gtgtaactgt
     2101 tctttgcagt gaagatgtgt aaataagcgt ttaatggtat ctgttactcc aaaaagaaat
     2161 attaatatgt acttttccat ttatttattc atgtgtacag aaacaactgc caaataaaat
     2221 gtttacattt tctttcata
//
