LGI3_HUMAN
ID LGI3_HUMAN Reviewed; 548 AA.
AC Q8N145; A5PLP2; Q86TL4; Q8N296;
DT 03-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Leucine-rich repeat LGI family member 3;
DE AltName: Full=LGI1-like protein 4;
DE AltName: Full=Leucine-rich glioma-inactivated protein 3;
DE Flags: Precursor;
GN Name=LGI3; Synonyms=LGIL4; ORFNames=UNQ8190/PRO23199;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=12023020; DOI=10.1016/s0014-5793(02)02713-8;
RA Gu W., Wevers A., Schroder H., Grzeschik K.H., Derst C., Brodtkorb E.,
RA de Vos R., Steinlein O.K.;
RT "The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new
RT subfamily of leucine-rich repeat proteins.";
RL FEBS Lett. 519:71-76(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=12095917; DOI=10.1093/hmg/11.15.1757;
RA Scheel H., Tomiuk S., Hofmann K.;
RT "A common protein interaction domain links two recently identified epilepsy
RT genes.";
RL Hum. Mol. Genet. 11:1757-1762(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=12217514; DOI=10.1016/s0968-0004(02)02163-1;
RA Staub E., Perez-Tur J., Siebert R., Nobile C., Moschonas N.K., Deloukas P.,
RA Hinzmann B.;
RT "The novel EPTP repeat defines a superfamily of proteins implicated in
RT epileptic disorders.";
RL Trends Biochem. Sci. 27:441-444(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 131-548 (ISOFORM 1).
RC TISSUE=Amygdala;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: May participate in the regulation of neuronal exocytosis.
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with STX1A. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Cytoplasmic vesicle,
CC secretory vesicle, synaptic vesicle {ECO:0000250}. Synapse, synaptosome
CC {ECO:0000250}. Note=Found in the synaptosomal membrane fraction.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N145-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N145-2; Sequence=VSP_056297;
CC -!- TISSUE SPECIFICITY: Widely expressed, with highest levels in brain and
CC lung. {ECO:0000269|PubMed:12023020}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03553.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF467956; AAM49554.1; -; mRNA.
DR EMBL; AJ487961; CAD32308.1; -; mRNA.
DR EMBL; AJ487518; CAD31786.1; -; mRNA.
DR EMBL; AY358116; AAQ88483.1; -; mRNA.
DR EMBL; AK090946; BAC03553.1; ALT_INIT; mRNA.
DR EMBL; AC105206; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042542; AAH42542.1; -; mRNA.
DR EMBL; BC142997; AAI42998.1; -; mRNA.
DR CCDS; CCDS6025.1; -. [Q8N145-1]
DR RefSeq; NP_644807.1; NM_139278.2. [Q8N145-1]
DR AlphaFoldDB; Q8N145; -.
DR SMR; Q8N145; -.
DR BioGRID; 128454; 2.
DR STRING; 9606.ENSP00000302297; -.
DR GlyGen; Q8N145; 2 sites.
DR iPTMnet; Q8N145; -.
DR PhosphoSitePlus; Q8N145; -.
DR BioMuta; LGI3; -.
DR DMDM; 32469742; -.
DR MassIVE; Q8N145; -.
DR PaxDb; Q8N145; -.
DR PeptideAtlas; Q8N145; -.
DR PRIDE; Q8N145; -.
DR ProteomicsDB; 71555; -. [Q8N145-1]
DR ProteomicsDB; 749; -.
DR Antibodypedia; 22532; 149 antibodies from 26 providers.
DR DNASU; 203190; -.
DR Ensembl; ENST00000306317.7; ENSP00000302297.2; ENSG00000168481.9. [Q8N145-1]
DR Ensembl; ENST00000424267.6; ENSP00000399121.2; ENSG00000168481.9. [Q8N145-2]
DR GeneID; 203190; -.
DR KEGG; hsa:203190; -.
DR MANE-Select; ENST00000306317.7; ENSP00000302297.2; NM_139278.4; NP_644807.1.
DR UCSC; uc003xav.4; human. [Q8N145-1]
DR CTD; 203190; -.
DR DisGeNET; 203190; -.
DR GeneCards; LGI3; -.
DR HGNC; HGNC:18711; LGI3.
DR HPA; ENSG00000168481; Tissue enriched (brain).
DR MIM; 608302; gene.
DR neXtProt; NX_Q8N145; -.
DR OpenTargets; ENSG00000168481; -.
DR PharmGKB; PA38655; -.
DR VEuPathDB; HostDB:ENSG00000168481; -.
DR eggNOG; ENOG502QSAR; Eukaryota.
DR GeneTree; ENSGT00940000160296; -.
DR HOGENOM; CLU_036403_0_0_1; -.
DR InParanoid; Q8N145; -.
DR OMA; NSNTFTM; -.
DR OrthoDB; 365688at2759; -.
DR PhylomeDB; Q8N145; -.
DR TreeFam; TF333155; -.
DR PathwayCommons; Q8N145; -.
DR Reactome; R-HSA-5682910; LGI-ADAM interactions.
DR BioGRID-ORCS; 203190; 14 hits in 1063 CRISPR screens.
DR ChiTaRS; LGI3; human.
DR GenomeRNAi; 203190; -.
DR Pharos; Q8N145; Tbio.
DR PRO; PR:Q8N145; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8N145; protein.
DR Bgee; ENSG00000168481; Expressed in C1 segment of cervical spinal cord and 123 other tissues.
DR ExpressionAtlas; Q8N145; baseline and differential.
DR Genevisible; Q8N145; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0043005; C:neuron projection; IEA:UniProtKB-KW.
DR GO; GO:0008021; C:synaptic vesicle; IBA:GO_Central.
DR GO; GO:0006887; P:exocytosis; IEA:UniProtKB-KW.
DR GO; GO:0017157; P:regulation of exocytosis; IBA:GO_Central.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR009039; EAR.
DR InterPro; IPR005492; EPTP.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR011041; Quinoprot_gluc/sorb_DH.
DR Pfam; PF03736; EPTP; 7.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 3.
DR SMART; SM00082; LRRCT; 1.
DR SUPFAM; SSF50952; SSF50952; 1.
DR PROSITE; PS50912; EAR; 7.
DR PROSITE; PS51450; LRR; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Exocytosis; Glycoprotein;
KW Leucine-rich repeat; Reference proteome; Repeat; Secreted; Signal; Synapse;
KW Synaptosome.
FT SIGNAL 1..30
FT /evidence="ECO:0000255"
FT CHAIN 31..548
FT /note="Leucine-rich repeat LGI family member 3"
FT /id="PRO_0000017710"
FT DOMAIN 31..64
FT /note="LRRNT"
FT REPEAT 89..110
FT /note="LRR 1"
FT REPEAT 113..134
FT /note="LRR 2"
FT REPEAT 137..158
FT /note="LRR 3"
FT DOMAIN 170..220
FT /note="LRRCT"
FT REPEAT 222..264
FT /note="EAR 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 268..310
FT /note="EAR 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 314..361
FT /note="EAR 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 363..406
FT /note="EAR 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 410..453
FT /note="EAR 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 455..497
FT /note="EAR 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 501..543
FT /note="EAR 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT CARBOHYD 189
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 311
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 117..140
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056297"
FT VARIANT 524
FT /note="A -> T (in dbSNP:rs34112456)"
FT /id="VAR_053488"
FT CONFLICT 509
FT /note="A -> V (in Ref. 4; AAQ88483)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 548 AA; 61704 MW; 32FE6EABA184E47B CRC64;
MAGLRARGGP GPGLLALSAL GFCLMLQVSA KRPPKTPPCP PSCSCTRDTA FCVDSKAVPR
NLPSEVISLT LVNAAFSEIQ DGAFSHLPLL QFLLLNSNKF TLIGDNAFTG LSHLQYLFIE
NNDIWALSKF TFRGLKSLTH LSLANNNLQT LPRDIFRPLD ILNDLDLRGN SLNCDCKVKW
LVEWLAHTNT TVAPIYCASP PRFQEHKVQD LPLREFDCIT TDFVLYQTLA FPAVSAEPFL
YSSDLYLALA QPGVSACTIL KWDYVERQLR DYDRIPAPSA VHCKPMVVDS QLYVVVAQLF
GGSYIYHWDP NTTRFTRLQD IDPQRVRKPN DLEAFRIDGD WYFAVADSSK AGATSLYRWH
QNGFYSHQAL HPWHRDTDLE FVDGEGKPRL IVSSSSQAPV IYQWSRTQKQ FVAQGEVTQV
PDAQAVKHFR AGRDSYLCLS RYIGDSKILR WEGTRFSEVQ ALPSRGSLAL QPFLVGGRRY
LALGSDFSFT QIYQWDEGRQ KFVRFQELAV QAPRAFCYMP AGDAQLLLAP SFKGQTLVYR
HIVVDLSA
