• Gene id: 9211

Gene Summary

• Gene Symbol: LGI1   Gene   UCSC   Ensembl
• Aliases: ADLTE, ADPAEF, ADPEAF, EPITEMPIN, EPT, ETL1, IB1099
• Gene name: leucine rich glioma inactivated 1
• Alternate names: leucine-rich glioma-inactivated protein 1, epitempin-1,
• Gene location: 10q23.33 (93757808: 93798173)     Exons: 9     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal
• OMIM: 604619

Protein Summary

• Protein general information: O95970  
  • Name: Leucine rich glioma inactivated protein 1 (Epitempin 1)
  • Length: 557  
  • Mass: 63818
  • Tissue specificity: Predominantly expressed in neural tissues, especially in brain. Expression is reduced in low-grade brain tumors and significantly reduced or absent in malignant gliomas. Isoform 1 is absent in the cerebellum and is detectable in the oc
• Sequence:

  MESERSKRMGNACIPLKRIAYFLCLLSALLLTEGKKPAKPKCPAVCTCTKDNALCENARSIPRTVPPDVISLSFV
  RSGFTEISEGSFLFTPSLQLLLFTSNSFDVISDDAFIGLPHLEYLFIENNNIKSISRHTFRGLKSLIHLSLANNN
  LQTLPKDIFKGLDSLTNVDLRGNSFNCDCKLKWLVEWLGHTNATVEDIYCEGPPEYKKRKINSLSSKDFDCIITE
  FAKSQDLPYQSLSIDTFSYLNDEYVVIAQPFTGKCIFLEWDHVEKTFRNYDNITGTSTVVCKPIVIETQLYVIVA
  QLFGGSHIYKRDSFANKFIKIQDIEILKIRKPNDIETFKIENNWYFVVADSSKAGFTTIYKWNGNGFYSHQSLHA
  WYRDTDVEYLEIVRTPQTLRTPHLILSSSSQRPVIYQWNKATQLFTNQTDIPNMEDVYAVKHFSVKGDVYICLTR
  FIGDSKVMKWGGSSFQDIQRMPSRGSMVFQPLQINNYQYAILGSDYSFTQVYNWDAEKAKFVKFQELNVQAPRSF
  THVSINKRNFLFASSFKGNTQIYKHVIVDLSA

• Structural information:
  • Protein Domains: (35..7-)
    (/note="LRRNT-)
    (173..22-)
    (/note="LRRCT"-)
  • Interpro: IPR000483  IPR009039  IPR005492  IPR001611  IPR003591   IPR032675  
  • Prosite: PS50912
  • PDB: 5Y2Z 5Y30 5Y31
  • PDBsum: 5Y2Z 5Y30 5Y31
  • STRING: ENSP00000360472
• Other Databases: GeneCards:  LGI1  Malacards:  LGI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031175	neuron projection development	IMP	biological process
GO:0005102	signaling receptor binding	IPI	NOT|molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	NOT|molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007411	axon guidance	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0050806	positive regulation of synaptic transmission	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0043083	synaptic cleft	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099645	neurotransmitter receptor localization to postsynaptic specialization membrane	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0050806	positive regulation of synaptic transmission	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Familial epilepsy temporal lobe	KEGG:H00809
Familial epilepsy temporal lobe	KEGG:H00809
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)