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Protein

Leucine-rich repeat LGI family member 4

Gene

LGI4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).By similarity

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5682910 LGI-ADAM interactions

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat LGI family member 4
Alternative name(s):
LGI1-like protein 3
Leucine-rich glioma-inactivated protein 4
Gene namesi
Name:LGI4
Synonyms:LGIL3
ORF Names:UNQ6515/PRO21485
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000153902.13
HGNCiHGNC:18712 LGI4
MIMi608303 gene
neXtProtiNX_Q8N135

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMCNMY is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.
See also OMIM:617468
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080055258R → P in AMCNMY. 1 PublicationCorresponds to variant dbSNP:rs755500591EnsemblClinVar.1
Natural variantiVAR_080056288 – 537Missing in AMCNMY. 1 PublicationAdd BLAST250
Natural variantiVAR_080057434V → D in AMCNMY. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi163175
MalaCardsiLGI4
MIMi617468 phenotype
OpenTargetsiENSG00000153902
PharmGKBiPA38656

Polymorphism and mutation databases

BioMutaiLGI4
DMDMi32469741

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000001771220 – 537Leucine-rich repeat LGI family member 4Add BLAST518

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi177N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N135
PeptideAtlasiQ8N135
PRIDEiQ8N135

PTM databases

iPTMnetiQ8N135
PhosphoSitePlusiQ8N135

Expressioni

Tissue specificityi

Widely expressed, with highest expression in brain.1 Publication

Gene expression databases

BgeeiENSG00000153902
CleanExiHS_LGI4
ExpressionAtlasiQ8N135 baseline and differential
GenevisibleiQ8N135 HS

Organism-specific databases

HPAiHPA042116
HPA043556

Interactioni

Subunit structurei

Can bind to ADAM11, ADAM22 and ADAM23.By similarity

Protein-protein interaction databases

BioGridi127855, 1 interactor
STRINGi9606.ENSP00000312273

Structurei

3D structure databases

ProteinModelPortaliQ8N135
SMRiQ8N135
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati53 – 74LRR 1Add BLAST22
Repeati77 – 98LRR 2Add BLAST22
Repeati101 – 122LRR 3Add BLAST22
Repeati125 – 146LRR 4Add BLAST22
Domaini158 – 208LRRCTAdd BLAST51
Repeati210 – 252EAR 1PROSITE-ProRule annotationAdd BLAST43
Repeati256 – 298EAR 2PROSITE-ProRule annotationAdd BLAST43
Repeati302 – 349EAR 3PROSITE-ProRule annotationAdd BLAST48
Repeati351 – 394EAR 4PROSITE-ProRule annotationAdd BLAST44
Repeati396 – 439EAR 5PROSITE-ProRule annotationAdd BLAST44
Repeati441 – 483EAR 6PROSITE-ProRule annotationAdd BLAST43
Repeati487 – 532EAR 7PROSITE-ProRule annotationAdd BLAST46

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IJHU Eukaryota
ENOG4111DWK LUCA
GeneTreeiENSGT00860000133701
HOGENOMiHOG000286015
HOVERGENiHBG036744
InParanoidiQ8N135
OMAiYQGEPHI
OrthoDBiEOG091G03ZX
PhylomeDBiQ8N135
TreeFamiTF333155

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR000483 Cys-rich_flank_reg_C
IPR009039 EAR
IPR005492 EPTP
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
PfamiView protein in Pfam
PF03736 EPTP, 3 hits
PF13855 LRR_8, 1 hit
SMARTiView protein in SMART
SM00369 LRR_TYP, 3 hits
SM00082 LRRCT, 1 hit
PROSITEiView protein in PROSITE
PS50912 EAR, 7 hits
PS51450 LRR, 3 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N135-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGGAGILLLL LAGAGVVVAW RPPKGKCPLR CSCSKDSALC EGSPDLPVSF
60 70 80 90 100
SPTLLSLSLV RTGVTQLKAG SFLRIPSLHL LLFTSNSFSV IEDDAFAGLS
110 120 130 140 150
HLQYLFIEDN EIGSISKNAL RGLRSLTHLS LANNHLETLP RFLFRGLDTL
160 170 180 190 200
THVDLRGNPF QCDCRVLWLL QWMPTVNASV GTGACAGPAS LSHMQLHHLD
210 220 230 240 250
PKTFKCRAIE LSWFQTVGES ALSVEPFSYQ GEPHIVLAQP FAGRCLILSW
260 270 280 290 300
DYSLQRFRPE EELPAASVVS CKPLVLGPSL FVLAARLWGG SQLWARPSPG
310 320 330 340 350
LRLAPTQTLA PRRLLRPNDA ELLWLEGQPC FVVADASKAG STTLLCRDGP
360 370 380 390 400
GFYPHQSLHA WHRDTDAEAL ELDGRPHLLL ASASQRPVLF HWTGGRFERR
410 420 430 440 450
TDIPEAEDVY ATRHFQAGGD VFLCLTRYIG DSMVMRWDGS MFRLLQQLPS
460 470 480 490 500
RGAHVFQPLL IARDQLAILG SDFAFSQVLR LEPDKGLLEP LQELGPPALV
510 520 530
APRAFAHITM AGRRFLFAAC FKGPTQIYQH HEIDLSA
Length:537
Mass (Da):59,141
Last modified:October 1, 2002 - v1
Checksum:i47B920C809679926
GO
Isoform 2 (identifier: Q8N135-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     210-261: ELSWFQTVGE...YSLQRFRPEE → GGGLSRWGGR...CLPEPQFSHL
     262-537: Missing.

Show »
Length:261
Mass (Da):28,231
Checksum:i07AC514EF74512B6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080055258R → P in AMCNMY. 1 PublicationCorresponds to variant dbSNP:rs755500591EnsemblClinVar.1
Natural variantiVAR_080056288 – 537Missing in AMCNMY. 1 PublicationAdd BLAST250
Natural variantiVAR_080057434V → D in AMCNMY. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009230210 – 261ELSWF…FRPEE → GGGLSRWGGRREIWGKGCQG QEARLTPCPAISRSGKTLSK QHCLPEPQFSHL in isoform 2. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_009231262 – 537Missing in isoform 2. 2 PublicationsAdd BLAST276

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF467954 mRNA Translation: AAM49552.1
AJ487959 mRNA Translation: CAD32306.1
AJ487519 mRNA Translation: CAD31787.1
AY358121 mRNA Translation: AAQ88488.1
BC087848 mRNA Translation: AAH87848.1
BC136694 mRNA Translation: AAI36695.1
BC136697 mRNA Translation: AAI36698.1
CCDSiCCDS12444.1 [Q8N135-1]
RefSeqiNP_644813.1, NM_139284.2 [Q8N135-1]
UniGeneiHs.65256

Genome annotation databases

EnsembliENST00000310123; ENSP00000312273; ENSG00000153902 [Q8N135-1]
ENST00000591633; ENSP00000467784; ENSG00000153902 [Q8N135-2]
GeneIDi163175
KEGGihsa:163175
UCSCiuc002nxx.3 human [Q8N135-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiLGI4_HUMAN
AccessioniPrimary (citable) accession number: Q8N135
Secondary accession number(s): B2RN53, B9EGS7, Q5M8T1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: October 1, 2002
Last modified: May 23, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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