Format

Send to:

Choose Destination

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

Gene ID: 9211, updated on 26-May-2016
Official Symbol
LGI1provided by HGNC
Official Full Name
leucine-rich, glioma inactivated 1provided by HGNC
Primary source
HGNC:HGNC:6572
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 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 growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Orthologs
Location:
10q24
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105378437 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?

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • LGI-ADAM interactions, organism-specific biosystem (from REACTOME)
    LGI-ADAM interactions, organism-specific biosystemSynapse formation and maturation require multiple interactions between presynaptic and postsynaptic neurons. These interactions are mediated by a diverse set of synaptogenic proteins (Kegel et al. 20...
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 TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
leucine-rich glioma-inactivated protein 1
Names
epitempin-1
leucine-rich glioma inactivated 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 RefSeqGene

    Range
    5001..45366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001308275.1NP_001295204.1  leucine-rich glioma-inactivated protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001295204.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which leads to a frameshift compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF473548, DB546258, DC326684, H05384
    Consensus CDS
    CCDS76325.1
    UniProtKB/Swiss-Prot
    O95970
    UniProtKB/TrEMBL
    A0A0S2Z4X3
    Conserved Domains (5) 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
    sd00031
    Location:7192
    LRR_1; leucine-rich repeat [structural motif]
  2. NM_001308276.1NP_001295205.1  leucine-rich glioma-inactivated protein 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001295205.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AF055636, AK303956, DB546258, DC326684, H05384
    UniProtKB/Swiss-Prot
    O95970
    Conserved Domains (5) summary
    pfam03736
    Location:415458
    EPTP; EPTP domain
    smart00370
    Location:91113
    LRR; Leucine-rich repeats, outliers
    smart00082
    Location:125173
    LRRCT; Leucine rich repeat C-terminal domain
    pfam13855
    Location:71127
    LRR_8; Leucine rich repeat
    sd00031
    Location:93116
    LRR_1; leucine-rich repeat [structural motif]
  3. NM_005097.3NP_005088.1  leucine-rich glioma-inactivated protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_005088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AY358885, DB546258, DC326684, H05384
    Consensus CDS
    CCDS7431.1
    UniProtKB/Swiss-Prot
    O95970
    UniProtKB/TrEMBL
    A0A0S2Z4S7
    Related
    ENSP00000360472, OTTHUMP00000020121, ENST00000371418, OTTHUMT00000049445
    Conserved Domains (5) 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
    sd00031
    Location:7192
    LRR_1; leucine-rich repeat [structural motif]

RNA

  1. NR_131777.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two internal exons and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF055636, AK309416, DB546258, DC326684, H05384

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005270272.1XP_005270329.1  

    Related
    ENSP00000360467, OTTHUMP00000020122, ENST00000371413, OTTHUMT00000049446
    Conserved Domains (5) 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
    sd00031
    Location:7192
    LRR_1; leucine-rich repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

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