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LGI1 leucine-rich, glioma inactivated 1 [ Homo sapiens (human) ]

Gene ID: 9211, updated on 13-Jan-2015
Official Symbol
LGI1provided by HGNC
Official Full Name
leucine-rich, glioma inactivated 1provided by HGNC
Primary source
HGNC:HGNC:6572
Locus tag
UNQ775/PRO1569
See related
Ensembl:ENSG00000108231; HPRD:05216; MIM:604619; Vega:OTTHUMG00000018777
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EPT; ETL1; ADLTE; ADPAEF; ADPEAF; IB1099; EPITEMPIN
Summary
This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. [provided by RefSeq, Jul 2008]
Orthologs
See LGI1 in Epigenomics, MapViewer
Location:
10q24
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (93757809..93798159)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95517566..95557916)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 Neighboring gene uncharacterized LOC101927013 Neighboring gene uncharacterized LOC101927032 Neighboring gene RAB11A, member RAS oncogene family pseudogene 1 Neighboring gene solute carrier family 35, member G1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axon guidance IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
leucine-rich glioma-inactivated protein 1
Names
leucine-rich glioma-inactivated protein 1
epitempin-1

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.

Genomic

  1. NG_011832.1 

    Range
    5001..45351
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005097.2NP_005088.1  leucine-rich glioma-inactivated protein 1 precursor

    See proteins identical to NP_005088.1

    Status: REVIEWED

    Source sequence(s)
    AY358885, DC326684
    Consensus CDS
    CCDS7431.1
    UniProtKB/Swiss-Prot
    O95970
    Related
    ENSP00000360472, OTTHUMP00000020121, ENST00000371418, OTTHUMT00000049445
    Conserved Domains (4) summary
    pfam03736
    Location:463506
    EPTP; EPTP domain
    smart00082
    Location:173221
    LRRCT; Leucine rich repeat C-terminal domain
    pfam12799
    Location:115155
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:91151
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    93757809..93798159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270272.1XP_005270329.1  

    See proteins identical to XP_005270329.1

    UniProtKB/Swiss-Prot
    O95970
    Related
    ENSP00000360467, OTTHUMP00000020122, ENST00000371413, OTTHUMT00000049446
    Conserved Domains (4) summary
    pfam03736
    Location:224267
    EPTP; EPTP domain
    smart00082
    Location:173221
    LRRCT; Leucine rich repeat C-terminal domain
    pfam12799
    Location:115155
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:91151
    LRR_8; Leucine rich repeat

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    95800134..95839500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    89145309..89184670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)