Lgi1 leucine-rich repeat LGI family, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lgi1provided by MGI
Official Full Name: leucine-rich repeat LGI family, member 1provided by MGI
Primary source: MGI:MGI:1861691
See related: Ensembl:ENSMUSG00000067242 AllianceGenome:MGI:1861691
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Involved in neurotransmitter receptor localization to postsynaptic specialization membrane. Located in extracellular space and glutamatergic synapse. Is active in synaptic cleft. Is expressed in several structures, including central nervous system; diaphragm; sensory organ; and skeletal musculature. Used to study familial temporal lobe epilepsy 1. Human ortholog(s) of this gene implicated in familial temporal lobe epilepsy 1. Orthologous to human LGI1 (leucine rich glioma inactivated 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 19.4), frontal lobe adult (RPKM 15.9) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 32.9 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (38253135..38297387)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (38264687..38308939)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rescue of Normal Excitability in LGI1-Deficient Epileptic Neurons.
Title: Rescue of Normal Excitability in LGI1-Deficient Epileptic Neurons.
Patient-derived antibodies reveal the subcellular distribution and heterogeneous interactome of LGI1.
Title: Patient-derived antibodies reveal the subcellular distribution and heterogeneous interactome of LGI1.
A novel Lgi1 mutation causes white matter abnormalities and impairs motor coordination in mice.
Title: A novel Lgi1 mutation causes white matter abnormalities and impairs motor coordination in mice.
LGI1-ADAM22-MAGUK configures transsynaptic nanoalignment for synaptic transmission and epilepsy prevention.
Title: LGI1-ADAM22-MAGUK configures transsynaptic nanoalignment for synaptic transmission and epilepsy prevention.
LGI1 downregulation increases neuronal circuit excitability.
Title: LGI1 downregulation increases neuronal circuit excitability.
Inactivation of Lgi1 in murine neuronal precursor cells leads to dysregulation of axon guidance pathways.
Title: Inactivation of Lgi1 in murine neuronal precursor cells leads to dysregulation of axon guidance pathways.
Neural stem cell specific inactivation of LGI1 results in cortical dysplasia.
Title: Selective inactivation of LGI1 in neuronal precursor cells leads to cortical dysplasia in mice.
LGI1 is expressed at the axonal initial segment and regulates action potential firing by setting the density of the axonal Kv1.1 channels.
Title: LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.
LGI1 has a role in regulating cortical development, which is increasingly becoming recognized as one of the causes of idiopathic epilepsy.
Title: Homozygous Deletion of the LGI1 Gene in Mice Leads to Developmental Abnormalities Resulting in Cortical Dysplasia.
LGI1 and ADAM22 form an essential synaptic organizing complex that coordinates the maturation of excitatory synapses by regulating the functional incorporation of PSD-95
Title: The LGI1-ADAM22 protein complex directs synapse maturation through regulation of PSD-95 function.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB130740 (e-PCR)
- UniSTS:186153

Lgi1 (e-PCR), detects polymorphism
- UniSTS:534868

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axon guidance	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic transmission	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in axon initial segment	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info
is_active_in synaptic cleft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leucine-rich glioma-inactivated protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_020278.3 → NP_064674.1 leucine-rich glioma-inactivated protein 1 precursor

See identical proteins and their annotated locations for NP_064674.1

Status: VALIDATED

Source sequence(s)

BC066090, CJ133398

Consensus CDS

CCDS29786.1

UniProtKB/Swiss-Prot

A0A0G2JFT0, Q9JIA1

UniProtKB/TrEMBL

A0A0G2JGB7

Related

ENSMUSP00000143128.2, ENSMUST00000198518.5

Conserved Domains (4) summary

TIGR00864
Location:146 → 221

PCC; polycystin cation channel protein

sd00031
Location:71 → 92

LRR_1; leucine-rich repeat [structural motif]

pfam03736
Location:317 → 363

EPTP; EPTP domain

pfam13855
Location:91 → 151

LRR_8; Leucine rich repeat