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    LGI4 leucine rich repeat LGI family member 4 [ Homo sapiens (human) ]

    Gene ID: 163175, updated on 3-Dec-2024

    Summary

    Official Symbol
    LGI4provided by HGNC
    Official Full Name
    leucine rich repeat LGI family member 4provided by HGNC
    Primary source
    HGNC:HGNC:18712
    See related
    Ensembl:ENSG00000153902 MIM:608303; AllianceGenome:HGNC:18712
    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
    AMC1; LGIL3; AMCNMY
    Summary
    Involved in regulation of myelination. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in arthrogryposis multiplex congenita-1 and childhood absence epilepsy. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 15.0), brain (RPKM 9.1) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LGI4 in Genome Data Viewer
    Location:
    19q13.12; 19q13.11
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35124513..35135059, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37669192..37679738, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35615417..35625963, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene HPN antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35581426-35581963 Neighboring gene hepatitis A virus cellular receptor 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35600165-35600765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35613161-35614050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35614051-35614938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14456 Neighboring gene FXYD domain containing ion transport regulator 3 Neighboring gene microRNA 6887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35632134-35632696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35633820-35634380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35634381-35634942 Neighboring gene FXYD domain containing ion transport regulator 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35642007-35642406 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:35643105-35643656 Neighboring gene FXYD domain containing ion transport regulator 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35644606-35645470

    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?

    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 adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination in peripheral nervous system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    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_139284.3NP_644813.1  leucine-rich repeat LGI family member 4 precursor

      See identical proteins and their annotated locations for NP_644813.1

      Status: VALIDATED

      Source sequence(s)
      AJ487519, AJ487959, BC140008, BU740724
      Consensus CDS
      CCDS12444.1
      UniProtKB/Swiss-Prot
      B2RN53, B9EGS7, Q5M8T1, Q8N135
      Related
      ENSP00000312273.3, ENST00000310123.8
      Conserved Domains (5) summary
      TIGR00864
      Location:131206
      PCC; polycystin cation channel protein
      sd00031
      Location:5477
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:167205
      LRR_RI; leucine-rich repeat [structural motif]
      pfam03736
      Location:396438
      EPTP; EPTP domain
      pfam13855
      Location:76136
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35124513..35135059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026428.1XP_016881917.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
      Related
      ENST00000493050.5
      Conserved Domains (1) summary
      pfam03736
      Location:224266
      EPTP; EPTP domain
    2. XM_017026429.1XP_016881918.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
      Conserved Domains (1) summary
      pfam03736
      Location:224266
      EPTP; EPTP domain
    3. XM_047438343.1XP_047294299.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
    4. XM_017026430.2XP_016881919.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
      Conserved Domains (1) summary
      pfam03736
      Location:224266
      EPTP; EPTP domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      37669192..37679738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320081.1XP_054176056.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
    2. XM_054320083.1XP_054176058.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
    3. XM_054320082.1XP_054176057.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8
    4. XM_054320084.1XP_054176059.1  leucine-rich repeat LGI family member 4 isoform X1

      UniProtKB/TrEMBL
      Q658V8