LGI4_MOUSE
ID LGI4_MOUSE Reviewed; 537 AA.
AC Q8K1S1; Q8K4Y8;
DT 03-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Leucine-rich repeat LGI family member 4;
DE AltName: Full=LGI1-like protein 3;
DE AltName: Full=Leucine-rich glioma-inactivated protein 4;
DE Flags: Precursor;
GN Name=Lgi4; Synonyms=Lgil3;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=C57BL/6J;
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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=C57BL/6J;
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 [3]
RP INTERACTION WITH ADAM11; ADAM22 AND ADAM23.
RX PubMed=18974846; DOI=10.7150/ijbs.4.387;
RA Sagane K., Ishihama Y., Sugimoto H.;
RT "LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11.";
RL Int. J. Biol. Sci. 4:387-396(2008).
RN [4]
RP FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND INVOLVEMENT IN CLP
RP PHENOTYPE.
RX PubMed=16341215; DOI=10.1038/nn1598;
RA Bermingham J.R. Jr., Shearin H., Pennington J., O'Moore J., Jaegle M.,
RA Driegen S., van Zon A., Darbas A., Ozkaynak E., Ryu E.J., Milbrandt J.,
RA Meijer D.;
RT "The claw paw mutation reveals a role for Lgi4 in peripheral nerve
RT development.";
RL Nat. Neurosci. 9:76-84(2006).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=19833108; DOI=10.1016/j.brainres.2009.10.013;
RA Herranz-Perez V., Olucha-Bordonau F.E., Morante-Redolat J.M., Perez-Tur J.;
RT "Regional distribution of the leucine-rich glioma inactivated (LGI) gene
RT family transcripts in the adult mouse brain.";
RL Brain Res. 1307:177-194(2010).
CC -!- FUNCTION: Component of Schwann cell signaling pathway(s) that controls
CC axon segregation and myelin formation. {ECO:0000269|PubMed:16341215}.
CC -!- SUBUNIT: Can bind to ADAM11, ADAM22 and ADAM23.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Brain. Expressed in the entire developing
CC peripheral nerves. Strongly expressed in the trigeminal nerve and
CC ganglion and particularly abundant in the boundary cap cells - a
CC transient population of cells that contributes to the Schwann cell
CC population of the dorsal root nerve. {ECO:0000269|PubMed:16341215,
CC ECO:0000269|PubMed:19833108}.
CC -!- DEVELOPMENTAL STAGE: Expressed at 14 dpc.
CC -!- DISEASE: Note=Defects in Lgi4 are the cause of the claw paw (clp)
CC phenotype. Mice are characterized by limb posture abnormalities and
CC peripheral hypomyelination, with no sign of dysmyelination in the CNS.
CC {ECO:0000269|PubMed:16341215}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AJ487960; CAD32307.1; -; mRNA.
DR EMBL; AJ487521; CAD31789.1; -; mRNA.
DR CCDS; CCDS21124.1; -.
DR RefSeq; NP_653139.2; NM_144556.2.
DR AlphaFoldDB; Q8K1S1; -.
DR SMR; Q8K1S1; -.
DR STRING; 10090.ENSMUSP00000041579; -.
DR GlyGen; Q8K1S1; 1 site.
DR PhosphoSitePlus; Q8K1S1; -.
DR PaxDb; Q8K1S1; -.
DR PRIDE; Q8K1S1; -.
DR ProteomicsDB; 286190; -.
DR Antibodypedia; 29282; 165 antibodies from 25 providers.
DR DNASU; 243914; -.
DR Ensembl; ENSMUST00000039775; ENSMUSP00000041579; ENSMUSG00000036560.
DR GeneID; 243914; -.
DR KEGG; mmu:243914; -.
DR UCSC; uc009ghz.1; mouse.
DR CTD; 163175; -.
DR MGI; MGI:2180197; Lgi4.
DR VEuPathDB; HostDB:ENSMUSG00000036560; -.
DR eggNOG; ENOG502SHYJ; Eukaryota.
DR GeneTree; ENSGT00940000162018; -.
DR HOGENOM; CLU_036403_0_0_1; -.
DR InParanoid; Q8K1S1; -.
DR OMA; GKCPPRC; -.
DR OrthoDB; 365688at2759; -.
DR PhylomeDB; Q8K1S1; -.
DR TreeFam; TF333155; -.
DR Reactome; R-MMU-5682910; LGI-ADAM interactions.
DR BioGRID-ORCS; 243914; 6 hits in 70 CRISPR screens.
DR ChiTaRS; Lgi4; mouse.
DR PRO; PR:Q8K1S1; -.
DR Proteomes; UP000000589; Chromosome 7.
DR RNAct; Q8K1S1; protein.
DR Bgee; ENSMUSG00000036560; Expressed in cerebellar cortex and 119 other tissues.
DR ExpressionAtlas; Q8K1S1; baseline and differential.
DR Genevisible; Q8K1S1; MM.
DR GO; GO:0005615; C:extracellular space; IDA:MGI.
DR GO; GO:0008344; P:adult locomotory behavior; IMP:MGI.
DR GO; GO:0021782; P:glial cell development; IMP:MGI.
DR GO; GO:0014009; P:glial cell proliferation; IDA:MGI.
DR GO; GO:0042063; P:gliogenesis; IMP:MGI.
DR GO; GO:0042552; P:myelination; IDA:MGI.
DR GO; GO:0022011; P:myelination in peripheral nervous system; IMP:MGI.
DR GO; GO:0042551; P:neuron maturation; IMP:MGI.
DR GO; GO:0031641; P:regulation of myelination; IDA:UniProtKB.
DR GO; GO:0014044; P:Schwann cell development; IMP:MGI.
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 Pfam; PF03736; EPTP; 1.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 3.
DR SMART; SM00082; LRRCT; 1.
DR PROSITE; PS50912; EAR; 7.
PE 1: Evidence at protein level;
KW Glycoprotein; Leucine-rich repeat; Reference proteome; Repeat; Secreted;
KW Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..537
FT /note="Leucine-rich repeat LGI family member 4"
FT /id="PRO_0000017713"
FT REPEAT 53..74
FT /note="LRR 1"
FT REPEAT 77..98
FT /note="LRR 2"
FT REPEAT 101..122
FT /note="LRR 3"
FT REPEAT 125..146
FT /note="LRR 4"
FT DOMAIN 158..208
FT /note="LRRCT"
FT REPEAT 210..252
FT /note="EAR 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 256..298
FT /note="EAR 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 302..349
FT /note="EAR 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 351..394
FT /note="EAR 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 396..439
FT /note="EAR 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 441..483
FT /note="EAR 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 487..532
FT /note="EAR 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT CARBOHYD 177
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CONFLICT 31..33
FT /note="CSC -> SSS (in Ref. 2; CAD31789)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 537 AA; 59377 MW; 6F28B4A8C629F481 CRC64;
MGGAGILLFL LAWAGAGVAW SPPKGKCPPH CSCSKENTLC EGSPELPESF STTLLSLSLV
RMGVSRLKAG SFLKMPSLHL LLFTSNTFSV IEGDAFIGLS YLQYLFIEDN KIGSISKNAL
RGLRSLTHLS LANNHLEALP RFLFRGLETL THVDLRGNPF QCDCRVLWLL QWMPTVNASV
GTGACAGPPA VAQIQLNHLD PKKFKCRATE LSWLQTVGES ALSVESFSYQ GEPHMVLAQP
FAGRCLILVW DYSLQRFRPE EELSAPSVVS CKPLVLGPRL FILAARLWGG SQLWSRSSPD
LRLTPVQVLA PQRLLRPNDA ELLWLDGQPC FVVADASKAG STTLLCRDGP GFYPRQSLHA
WHRDTDAEAL ELDGRPHLLL ASASQRPVLF HWVGGRFERR TDIPEAEDVY ATKHFQAGGD
VFLCLTRYIG DSMVMRWDGS MFRLLQQLPS RGSHVFQPLL IARDQLAILG SDFAFSQVFR
FESDKGILEP LQELGPPALV APRAFAQVTV AGRRFLFAAC FKGPTQIYQH HELDLSA
