LOCUS       NM_139284               2673 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens leucine rich repeat LGI family member 4 (LGI4), mRNA.
ACCESSION   NM_139284
VERSION     NM_139284.3
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 2673)
  AUTHORS   Booth,D.G., Kozar,N., Bradley,S. and Meijer,D.
  TITLE     Characterizing the molecular etiology of arthrogryposis multiplex
            congenita in patients with LGI4 mutations
  JOURNAL   Glia 69 (11), 2605-2617 (2021)
   PUBMED   34288120
  REMARK    GeneRIF: Characterizing the molecular etiology of arthrogryposis
            multiplex congenita in patients with LGI4 mutations.
REFERENCE   2  (bases 1 to 2673)
  AUTHORS   Xue,S., Maluenda,J., Marguet,F., Shboul,M., Quevarec,L.,
            Bonnard,C., Ng,A.Y., Tohari,S., Tan,T.T., Kong,M.K., Monaghan,K.G.,
            Cho,M.T., Siskind,C.E., Sampson,J.B., Rocha,C.T., Alkazaleh,F.,
            Gonzales,M., Rigonnot,L., Whalen,S., Gut,M., Gut,I., Bucourt,M.,
            Venkatesh,B., Laquerriere,A., Reversade,B. and Melki,J.
  TITLE     Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in
            Schwann Cell Myelination, Are Responsible for Arthrogryposis
            Multiplex Congenita
  JOURNAL   Am J Hum Genet 100 (4), 659-665 (2017)
   PUBMED   28318499
  REMARK    GeneRIF: in four unrelated multiplex families presenting with
            severe arthrogryposis multiplex congenital, identified biallelic
            loss-of-function mutations in LGI4; functional tests showed these
            germline mutations caused aberrant splicing of the endogenous LGI4
            transcript and in a cell-based assay impaired the secretion of
            truncated LGI4 protein
REFERENCE   3  (bases 1 to 2673)
  AUTHORS   Costa,E.T., Barnabe,G.F., Li,M., Dias,A.A., Machado,T.R.,
            Asprino,P.F., Cavalher,F.P., Ferreira,E.N., Del Mar Inda,M.,
            Nagai,M.H., Malnic,B., Duarte,M.L., Leite,K.R., de Barros,A.C.,
            Carraro,D.M., Chammas,R., Armelin,H.A., Cavenee,W., Furnari,F. and
            Camargo,A.A.
  TITLE     Intratumoral heterogeneity of ADAM23 promotes tumor growth and
            metastasis through LGI4 and nitric oxide signals
  JOURNAL   Oncogene 34 (10), 1270-1279 (2015)
   PUBMED   24662834
  REMARK    GeneRIF: Intratumoral heterogeneity of ADAM23 promotes tumor growth
            and metastasis through LGI4 and nitric oxide signals.
REFERENCE   4  (bases 1 to 2673)
  AUTHORS   Ishii,A., Zhang,B., Kaneko,S. and Hirose,S.
  TITLE     Positive association between benign familial infantile convulsions
            and LGI4
  JOURNAL   Brain Dev 32 (7), 538-543 (2010)
   PUBMED   19815358
  REMARK    GeneRIF: The positive genotypic association between benign familial
            infantile convulsions (BFIC)and c.1722G/A polymorphism suggests
            that LGI4 might contribute to the susceptibility to BFIC.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2673)
  AUTHORS   Ozkaynak,E., Abello,G., Jaegle,M., van Berge,L., Hamer,D.,
            Kegel,L., Driegen,S., Sagane,K., Bermingham,J.R. Jr. and Meijer,D.
  TITLE     Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell
            signaling
  JOURNAL   J Neurosci 30 (10), 3857-3864 (2010)
   PUBMED   20220021
  REMARK    GeneRIF: Schwann cells are the principal cellular source of Lgi4 in
            the developing nerve; transgenic Lgi4 binds directly to Adam22
            without a requirement for additional membrane associated factors.
REFERENCE   6  (bases 1 to 2673)
  AUTHORS   Gu,W., Sander,T., Becker,T. and Steinlein,O.K.
  TITLE     Genotypic association of exonic LGI4 polymorphisms and childhood
            absence epilepsy
  JOURNAL   Neurogenetics 5 (1), 41-44 (2004)
   PUBMED   14505228
  REMARK    GeneRIF: Screening of the LGI4 coding region in BFIC and childhood
            absence epilepsy (CAE) revealed several frequent exonic
            polymorphisms.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2673)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 2673)
  AUTHORS   Staub,E., Perez-Tur,J., Siebert,R., Nobile,C., Moschonas,N.K.,
            Deloukas,P. and Hinzmann,B.
  TITLE     The novel EPTP repeat defines a superfamily of proteins implicated
            in epileptic disorders
  JOURNAL   Trends Biochem Sci 27 (9), 441-444 (2002)
   PUBMED   12217514
  REMARK    GeneRIF: has seven copies of the EPTP repeat, a unifying protein
            sequence motif of a heterogenous group of proteins linked to
            epileptic diseases. The EPTP repeat probably forms a beta-propeller
            structure.
            Review article
REFERENCE   9  (bases 1 to 2673)
  AUTHORS   Scheel,H., Tomiuk,S. and Hofmann,K.
  TITLE     A common protein interaction domain links two recently identified
            epilepsy genes
  JOURNAL   Hum Mol Genet 11 (15), 1757-1762 (2002)
   PUBMED   12095917
REFERENCE   10 (bases 1 to 2673)
  AUTHORS   Gu,W., Wevers,A., Schroder,H., Grzeschik,K.H., Derst,C.,
            Brodtkorb,E., de Vos,R. and Steinlein,O.K.
  TITLE     The LGI1 gene involved in lateral temporal lobe epilepsy belongs to
            a new subfamily of leucine-rich repeat proteins
  JOURNAL   FEBS Lett 519 (1-3), 71-76 (2002)
   PUBMED   12023020
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC140008.1, AJ487959.1, AJ487519.1 and BU740724.1.
            
            On Nov 22, 2018 this sequence version replaced NM_139284.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ487519.1, SRR3476690.929311.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310123.8/ ENSP00000312273.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-352               BC140008.1         216-567
            353-2073            AJ487959.1         1-1721
            2074-2667           AJ487519.1         2214-2807
            2668-2673           BU740724.1         19-24               c
FEATURES             Location/Qualifiers
     source          1..2673
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.12"
     gene            1..2673
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /note="leucine rich repeat LGI family member 4"
                     /db_xref="GeneID:163175"
                     /db_xref="HGNC:HGNC:18712"
                     /db_xref="MIM:608303"
     exon            1..549
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             380..1993
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /note="leucine-rich glioma-inactivated gene 4; LGI1-like
                     protein 3; leucine-rich glioma-inactivated protein 4"
                     /codon_start=1
                     /product="leucine-rich repeat LGI family member 4
                     precursor"
                     /protein_id="NP_644813.1"
                     /db_xref="CCDS:CCDS12444.1"
                     /db_xref="GeneID:163175"
                     /db_xref="HGNC:HGNC:18712"
                     /db_xref="MIM:608303"
                     /translation="MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSP
                     DLPVSFSPTLLSLSLVRTGVTQLKAGSFLRIPSLHLLLFTSNSFSVIEDDAFAGLSHL
                     QYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPF
                     QCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVG
                     ESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVL
                     GPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVA
                     DASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHW
                     TGGRFERRTDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPS
                     RGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQELGPPALVAPRAFAHI
                     TMAGRRFLFAACFKGPTQIYQHHEIDLSA"
     exon            550..621
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            622..693
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            694..765
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            766..837
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            838..1007
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1172
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1678
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..2673
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2652..2657
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /note="hexamer: AATAAA"
     polyA_site      2673
                     /gene="LGI4"
                     /gene_synonym="AMC1; AMCNMY; LGIL3"
                     /note="major polyA site"
ORIGIN      
        1 acacacactc acatacactc acacacatag agaccaacag atagacagct acctaaagcc
       61 tgaaagactg acagcaacac agaaaaaaag aaacaggcag aaagagagac aaagacagaa
      121 atagaaacag actaacacac agagtcaaaa atacagagac agaaagacag ggagaaagag
      181 aaacagaaaa ttagacacca aagacatacg aacagggagg aaggccgact gaaagaaaga
      241 cggagaagag gagagagaag ccagggccga gcgtgccagc aggcggatgg agggcggcct
      301 ggtggaggag gagacgtagt ggcctgggct gagctgggtg ggccgggaga agcgggtgcc
      361 tcagagtggg ggtgggggca tgggaggggc aggcattctg ctgctgctgc tggctggggc
      421 gggggtggtg gtggcctgga gacccccaaa gggaaagtgt cccctgcgct gctcctgctc
      481 taaagacagc gccctgtgtg agggctcccc ggacctgccc gtcagcttct ctccgaccct
      541 gctgtcactc tcactcgtca ggacgggagt cacccagctg aaggccggca gcttcctgag
      601 aattccgtct ctgcacctgc tcctcttcac ctccaactcc ttctccgtga ttgaggacga
      661 tgcatttgcg ggcctgtccc acctgcagta cctcttcatc gaggacaatg agattggctc
      721 catctctaag aatgccctca gaggacttcg ctcgcttaca cacctaagcc tggccaataa
      781 ccatctggag accctcccca gattcctgtt ccgaggcctg gacaccctta ctcatgtgga
      841 cctccgcggg aacccgttcc agtgtgactg ccgcgtcctc tggctcctgc agtggatgcc
      901 caccgtgaat gccagcgtgg ggaccggcgc ctgtgcgggc cccgcctccc tgagccacat
      961 gcagctccac cacctcgacc ccaagacttt caagtgcaga gccatagagc tgtcctggtt
     1021 ccagacggtg ggggagtcgg cactgagcgt agagcccttc tcctaccaag gggagcctca
     1081 cattgtgctg gcacagccct tcgccggccg ctgcctgatt ctctcctggg actacagcct
     1141 gcagcgcttc cggcccgagg aagagctgcc cgcggcctcc gtggtgtcct gcaagccact
     1201 ggtgctgggc ccgagcctct tcgtgctggc tgcccgcctg tgggggggct cacagctgtg
     1261 ggcccggccc agtcccggcc tgcgcctggc cccaacgcag accctggccc cgcggcggct
     1321 gctgcggccc aatgacgccg agctcctgtg gctggaaggg caaccctgct tcgtggtggc
     1381 cgatgcctcc aaggcgggca gcaccacgct gctgtgccgc gacgggcccg gcttttaccc
     1441 gcaccagagc ctgcacgcct ggcaccggga cacggacgct gaggccctgg agctggacgg
     1501 ccggccccac ctgctgctgg cctcggcttc ccagcggccc gtgctcttcc actggaccgg
     1561 tggccgcttc gagagacgca cagacatccc cgaggccgag gatgtctatg ccacacgcca
     1621 cttccaggct ggtggggacg tgttcctgtg cctcacacgc tacattgggg actccatggt
     1681 catgcgctgg gacggctcca tgtttcgtct gctgcagcaa cttccctcgc gcggtgccca
     1741 cgtcttccag ccactgctca tcgccaggga ccagctggcc atcctaggca gcgacttcgc
     1801 cttcagccag gtcctccgcc ttgagcctga caaggggctc ctggagccac tgcaggagct
     1861 ggggcctccg gccctggtgg ccccccgtgc ctttgcccac atcactatgg ccggcagacg
     1921 cttcctcttt gctgcttgct ttaagggccc cacacagatc taccagcatc acgagatcga
     1981 cctcagtgcc tgagaccacc aacgggactc tgggcatggc tggggcccct ggacggcccc
     2041 ttggctggct cctggcccta cttggggtga tggcccgcct gtgagctgct gaccgtgggc
     2101 cacgttcatc agccacacgt ctaggcctta agcccacttc ttaaaggatc tgcacccatg
     2161 gggggacata gagggtccca gcctactgga cctcccgagc tgcccttcag gtctaaagca
     2221 acatctggac atctcggctg gggcagattc cccatcaaag gcaacctggg gggtgcaggc
     2281 tggtgcactg catggagtcg aggtggaggt cacgtgcaga gctccatgag gtcccggagc
     2341 ccccctctca acccgctcct accccgctgg tccctctgaa agcaccgagg ggttgatggc
     2401 attcctttcc cattctaaac tccacgcagc caatcgcttt cctggaggag cgccaacctc
     2461 gaagacaact cagcactggg cgggttcccc tctgctgctt gtgcgcatgc gtgcggccgc
     2521 ccagcaagct gtgccttttg cgcctcttgc gcgtgcgccg gggcacaggg agggacagcg
     2581 ggaggtgtcg cggggagcct ggtgcccttc tagatgggcg acggaggcaa ggacaagacg
     2641 agtccgagct caataaatgc gctgtgcacc ctc
//
