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    LGI3 leucine rich repeat LGI family member 3 [ Homo sapiens (human) ]

    Gene ID: 203190, updated on 7-Jan-2024

    Summary

    Official Symbol
    LGI3provided by HGNC
    Official Full Name
    leucine rich repeat LGI family member 3provided by HGNC
    Primary source
    HGNC:HGNC:18711
    See related
    Ensembl:ENSG00000168481 MIM:608302; AllianceGenome:HGNC:18711
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGIL4; IDDMDS
    Summary
    Predicted to enable catalytic activity. Predicted to be involved in regulation of exocytosis. Predicted to be located in extracellular region. Predicted to be active in synaptic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 29.1), lung (RPKM 12.3) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LGI3 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22146830..22156806, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22420778..22430751, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22004343..22014319, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene HR lysine demethylase and nuclear receptor corepressor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997193-21997801 Neighboring gene HR upstream open reading frame Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21997802-21998409 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18981 Neighboring gene receptor accessory protein 4 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:22014424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18982 Neighboring gene surfactant protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22031123-22031622 Neighboring gene bone morphogenetic protein 1 Neighboring gene uncharacterized LOC124901904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22046165-22046665 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
    MedGen: C5774199 OMIM: 620007 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in juxtaparanode region of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    leucine-rich repeat LGI family member 3
    Names
    LGI1-like protein 4
    leucine-rich glioma-inactivated protein 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_139278.4NP_644807.1  leucine-rich repeat LGI family member 3 precursor

      See identical proteins and their annotated locations for NP_644807.1

      Status: VALIDATED

      Source sequence(s)
      AC105206
      Consensus CDS
      CCDS6025.1
      UniProtKB/Swiss-Prot
      A5PLP2, Q86TL4, Q8N145, Q8N296
      Related
      ENSP00000302297.2, ENST00000306317.7
      Conserved Domains (6) summary
      smart00370
      Location:135158
      LRR; Leucine-rich repeats, outliers
      smart00082
      Location:170218
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:6889
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:222263
      EPTP; EPTP domain
      pfam12799
      Location:113152
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:112172
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      22146830..22156806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22420778..22430751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)