ENSG00000108231


Homo sapiens

Features
Gene ID: ENSG00000108231
  
Biological name :LGI1
  
Synonyms : leucine rich glioma inactivated 1 / LGI1 / O95970
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q23.33
Gene start: 93757809
Gene end: 93806272
  
Corresponding Affymetrix probe sets: 206349_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486859
Ensembl peptide - ENSP00000486607
Ensembl peptide - ENSP00000486908
Ensembl peptide - ENSP00000490860
Ensembl peptide - ENSP00000490654
Ensembl peptide - ENSP00000490597
Ensembl peptide - ENSP00000490496
Ensembl peptide - ENSP00000490355
Ensembl peptide - ENSP00000490325
Ensembl peptide - ENSP00000490058
Ensembl peptide - ENSP00000489781
Ensembl peptide - ENSP00000489763
Ensembl peptide - ENSP00000489682
Ensembl peptide - ENSP00000487116
Ensembl peptide - ENSP00000360467
Ensembl peptide - ENSP00000360472
Ensembl peptide - ENSP00000485868
Ensembl peptide - ENSP00000485917
Ensembl peptide - ENSP00000486517
NCBI entrez gene - 9211     See in Manteia.
OMIM - 604619
RefSeq - XM_017016912
RefSeq - NM_001308275
RefSeq - NM_001308276
RefSeq - NM_005097
RefSeq - XM_017016911
RefSeq Peptide - NP_001295204
RefSeq Peptide - NP_001295205
RefSeq Peptide - NP_005088
swissprot - A0A0S2Z4S7
swissprot - A0A0D9SFU4
swissprot - A0A0D9SFS5
swissprot - A0A0D9SFH6
swissprot - O95970
swissprot - A0A0D9SFE3
swissprot - A0A1B0GWB4
swissprot - A0A1B0GVP2
swissprot - A0A1B0GVF6
swissprot - A0A1B0GUD3
swissprot - A0A1B0GV33
swissprot - A0A1B0GTM5
swissprot - A0A0S2Z4X3
Ensembl - ENSG00000108231
  
Related genetic diseases (OMIM): 600512 - Epilepsy, familial temporal lobe, 1, 600512
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 LGI1ENSGALG00000031720Gallus gallus
 Lgi1ENSMUSG00000067242Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LGI2 / Q8N0V4 / leucine rich repeat LGI family member 2ENSG0000015301254
LGI3 / Q8N145 / leucine rich repeat LGI family member 3ENSG0000016848150
LGI4 / Q8N135 / leucine rich repeat LGI family member 4ENSG0000015390248
LRIG3 / Q6UXM1 / leucine rich repeats and immunoglobulin like domains 3ENSG0000013926320
LRIG2 / O94898 / leucine rich repeats and immunoglobulin like domains 2ENSG0000019879920
LRIG1 / Q96JA1 / leucine rich repeats and immunoglobulin like domains 1ENSG0000014474919
ADGRA3 / Q8IWK6 / adhesion G protein-coupled receptor A3ENSG0000015299015
ADGRA2 / Q96PE1 / adhesion G protein-coupled receptor A2ENSG0000002018114
VASN / Q6EMK4 / vasorinENSG0000016814014
ADGRA1 / Q86SQ6 / adhesion G protein-coupled receptor A1ENSG000001971776


Protein motifs (from Interpro)
Interpro ID Name
 IPR000483  Cysteine-rich flanking region, C-terminal
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR005492  Leucine-rich glioma-inactivated , EPTP repeat
 IPR009039  EAR
 IPR032675  Leucine-rich repeat domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007411 axon guidance IMP
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0030307 positive regulation of cell growth IMP
 biological_processGO:0031175 neuron projection development IMP
 biological_processGO:0050806 positive regulation of synaptic transmission ISS
 biological_processGO:0051260 protein homooligomerization IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
LGI-ADAM interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0002349 Simple partial seizures "A `partial seizure` (HP:0007359) in which consciousness is maintained." [HPO:probinson]
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 HP:0002384 Complex partial seizures "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators]
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 HP:0003829 Incomplete penetrance 
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 HP:0007334 Partial seizures with secondary generalization "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson]
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 HP:0011158 Auditory auras "Auras with sensations of buzzing, drumming sounds or single tones." [HPO:jalbers]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000073670 ADAM11 / O75078 / ADAM metallopeptidase domain 11  / reaction / complex
 ENSG00000075461 CACNG4 / Q9UBN1 / calcium voltage-gated channel auxiliary subunit gamma 4  / reaction / complex
 ENSG00000006116 CACNG3 / O60359 / calcium voltage-gated channel auxiliary subunit gamma 3  / reaction / complex
 ENSG00000142408 CACNG8 / Q8WXS5 / calcium voltage-gated channel auxiliary subunit gamma 8  / complex / reaction
 ENSG00000114948 ADAM23 / O75077 / ADAM metallopeptidase domain 23  / reaction / complex
 ENSG00000008277 ADAM22 / Q9P0K1 / ADAM metallopeptidase domain 22  / complex / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000166862 CACNG2 / Q9Y698 / calcium voltage-gated channel auxiliary subunit gamma 2  / complex / reaction
 ENSG00000108231 LGI1 / O95970 / leucine rich glioma inactivated 1  / complex






 

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