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

Gene ID: 203190, updated on 22-Sep-2022

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
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Genomic context

See LGI3 in Genome Data Viewer
Location:
8p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22146830..22156806, complement)
110 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 HR upstream open reading frame Neighboring gene receptor accessory protein 4 Neighboring gene surfactant protein C Neighboring gene bone morphogenetic protein 1 Neighboring gene uncharacterized LOC124901904

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: CN315960 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

General gene information

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
PubMed 
Component Evidence Code Pubs
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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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_139278.4NP_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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)