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

    Gene ID: 203190, updated on 10-Dec-2024

    Summary

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    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 be involved in regulation of exocytosis. Located in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 29.1), lung (RPKM 12.3) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LGI3 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22146830..22156806, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22420778..22430751, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. LGI3 promotes human keratinocyte migration in high-glucose environments by increasing the expression of β-catenin. Kim SY, et al. Pharmazie, 2022 Jun 1. PMID 35751164
    2. LGI3 promotes human keratinocyte differentiation via the Akt pathway. Kim IW, et al. Exp Dermatol, 2018 Nov. PMID 30091803
    3. Leucine-rich glioma inactivated 3: Integrative analyses reveal its potential prognostic role in cancer. Kwon NS, et al. Mol Med Rep, 2018 Mar. PMID 29257304
    4. Leucine-rich glioma inactivated 3 is a melanogenic cytokine in human skin. Jeong HS, et al. Exp Dermatol, 2014 Aug. PMID 24903553
    5. Leucine-rich glioma inactivated 3 promotes HaCaT keratinocyte migration. Jeong YM, et al. Wound Repair Regen, 2013 Jul-Aug. PMID 23815230

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LGI3 promotes human keratinocyte migration in high-glucose environments by increasing the expression of beta-catenin.
      Title: LGI3 promotes human keratinocyte migration in high-glucose environments by increasing the expression of β-catenin.
    2. LGI3 is secreted and binds to ADAM22 via TRIF-dependent NF-kappaB pathway in response to LPS in human keratinocytes.
      Title: LGI3 is secreted and binds to ADAM22 via TRIF-dependent NF-κB pathway in response to LPS in human keratinocytes.
    3. Taken together, these results suggest that LGI3 promotes keratinocyte differentiation.
      Title: LGI3 promotes human keratinocyte differentiation via the Akt pathway.
    4. The expression of LGI3 was significantly associated with the prognosis of brain, colorectal and lung cancer.
      Title: Leucine-rich glioma inactivated 3: Integrative analyses reveal its potential prognostic role in cancer.
    5. Leucine-rich glioma inactivated 3 is a cytokine in human skin that promotes melanin production.
      Title: Leucine-rich glioma inactivated 3 is a melanogenic cytokine in human skin.
    6. LGI3 was mostly expressed in the granular layer of the epidermis of human skin.
      Title: Leucine-rich glioma inactivated 3 promotes HaCaT keratinocyte migration.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    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)

    1. NM_139278.4 → NP_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:135 → 158
      LRR; Leucine-rich repeats, outliers
      smart00082
      Location:170 → 218
      LRRCT; Leucine rich repeat C-terminal domain
      sd00031
      Location:68 → 89
      LRR_1; leucine-rich repeat [structural motif]
      pfam03736
      Location:222 → 263
      EPTP; EPTP domain
      pfam12799
      Location:113 → 152
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:112 → 172
      LRR_8; Leucine rich repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N145.1 GenPept UniProtKB/Swiss-Prot:Q8N145

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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