Q8N135 · LGI4_HUMAN

  • Protein
    Leucine-rich repeat LGI family member 4
  • Gene
    LGI4
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

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

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentextracellular region
Cellular Componentextracellular space
Biological Processadult locomotory behavior
Biological Processglial cell proliferation
Biological Processmyelination in peripheral nervous system
Biological Processneuron maturation
Biological Processregulation of myelination

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Leucine-rich repeat LGI family member 4
  • Alternative names
    • LGI1-like protein 3
    • Leucine-rich glioma-inactivated protein 4

Gene names

    • Name
      LGI4
    • Synonyms
      LGIL3
    • ORF names
      UNQ6515/PRO21485

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q8N135
  • Secondary accessions
    • B2RN53
    • B9EGS7
    • Q5M8T1

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Involvement in disease

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (AMC1)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 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
    MIM:617468
Natural variants in AMC1
Variant IDPosition(s)ChangeDescription
VAR_080055258R>Pin AMC1; dbSNP:rs755500591
VAR_080056288-537missingin AMC1
VAR_080057434V>Din AMC1; dbSNP:rs1064797094

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_080055258in AMC1; dbSNP:rs755500591
Natural variantVAR_080056288-537in AMC1
Natural variantVAR_080057434in AMC1; dbSNP:rs1064797094

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 727 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for signal, chain, glycosylation.

TypeIDPosition(s)Description
Signal1-19
ChainPRO_000001771220-537Leucine-rich repeat LGI family member 4
Glycosylation177N-linked (GlcNAc...) asparagine

Keywords

Proteomic databases

PTM databases

Expression

Tissue specificity

Widely expressed, with highest expression in brain.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Can bind to ADAM11, ADAM22 and ADAM23.

Protein-protein interaction databases

Miscellaneous

Structure

Family & Domains

Features

Showing features for repeat, domain.

TypeIDPosition(s)Description
Repeat53-74LRR 1
Repeat77-98LRR 2
Repeat101-122LRR 3
Repeat125-146LRR 4
Domain158-208LRRCT
Repeat210-252EAR 1
Repeat256-298EAR 2
Repeat302-349EAR 3
Repeat351-394EAR 4
Repeat396-439EAR 5
Repeat441-483EAR 6
Repeat487-532EAR 7

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.

This entry describes 2 isoforms produced by Alternative splicing.

Q8N135-1

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.

  • Length
    537
  • Mass (Da)
    59,141
  • Last updated
    2002-10-01 v1
  • Checksum
    47B920C809679926
MGGAGILLLLLAGAGVVVAWRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLVRTGVTQLKAGSFLRIPSLHLLLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPFQCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA

Q8N135-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical
    • 210-261: ELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDYSLQRFRPEE → GGGLSRWGGRREIWGKGCQGQEARLTPCPAISRSGKTLSKQHCLPEPQFSHL
    • 262-537: Missing

Computationally mapped potential isoform sequences

There are 2 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
A8MVC2A8MVC2_HUMANLGI4494
K7ENQ0K7ENQ0_HUMANLGI4378

Features

Showing features for alternative sequence.

TypeIDPosition(s)Description
Alternative sequenceVSP_009230210-261in isoform 2
Alternative sequenceVSP_009231262-537in isoform 2

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF467954
EMBL· GenBank· DDBJ
AAM49552.1
EMBL· GenBank· DDBJ
mRNA
AJ487959
EMBL· GenBank· DDBJ
CAD32306.1
EMBL· GenBank· DDBJ
mRNA
AJ487519
EMBL· GenBank· DDBJ
CAD31787.1
EMBL· GenBank· DDBJ
mRNA
AY358121
EMBL· GenBank· DDBJ
AAQ88488.1
EMBL· GenBank· DDBJ
mRNA
BC087848
EMBL· GenBank· DDBJ
AAH87848.1
EMBL· GenBank· DDBJ
mRNA
BC136694
EMBL· GenBank· DDBJ
AAI36695.1
EMBL· GenBank· DDBJ
mRNA
BC136697
EMBL· GenBank· DDBJ
AAI36698.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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