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

Gene ID: 203190, updated on 5-Mar-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 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
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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_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

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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 (17) 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)

Genotypes

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_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)
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.

Chemical Information
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