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

Gene ID: 163175, updated on 10-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, Dec 2024]
Expression
Broad expression in fat (RPKM 15.0), brain (RPKM 9.1) and 21 other tissues See more
Orthologs
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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)

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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_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