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

    Gene ID: 9211, updated on 25-Aug-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:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (93757770..93798174)
    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 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 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

    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
      Related
      ENSP00000360467, OTTHUMP00000020122, ENST00000371413, OTTHUMT00000049446
      Conserved Domains (5) summary
      smart00082
      Location:173221
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:7192
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:225266
      EPTP; EPTP domain
      pfam12799
      Location:115155
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:91151
      LRR_8; Leucine rich repeat
    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
      Related
      ENSP00000485917, OTTHUMP00000278320, ENST00000630047, OTTHUMT00000480224
      Conserved Domains (5) summary
      smart00370
      Location:91113
      LRR; Leucine-rich repeats, outliers
      smart00082
      Location:125173
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:93116
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:462502
      EPTP; EPTP domain
      pfam13855
      Location:71127
      LRR_8; Leucine rich repeat
    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
      Related
      ENST00000627420, OTTHUMT00000480220

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      93757770..93798174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016912.1XP_016872401.1  

      Conserved Domains (5) summary
      smart00370
      Location:91113
      LRR; Leucine-rich repeats, outliers
      smart00082
      Location:125173
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:93116
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:177218
      EPTP; EPTP domain
      pfam13855
      Location:71127
      LRR_8; Leucine rich repeat
    2. XM_017016911.1XP_016872400.1  

      Related
      ENSP00000490058, OTTHUMP00000282713, ENST00000635953, OTTHUMT00000490460

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      95800134..95839515
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)