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    LLGL1 LLGL scribble cell polarity complex component 1 [ Homo sapiens (human) ]

    Gene ID: 3996, updated on 7-Jul-2019

    Summary

    Official Symbol
    LLGL1provided by HGNC
    Official Full Name
    LLGL scribble cell polarity complex component 1provided by HGNC
    Primary source
    HGNC:HGNC:6628
    See related
    Ensembl:ENSG00000131899 MIM:600966
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DLG4; HUGL; LLGL; Lgl1; Mgl1; HUGL1; HUGL-1
    Summary
    This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 15.9), testis (RPKM 7.8) and 23 other tissues See more
    Orthologs

    Genomic context

    See LLGL1 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (18225593..18244875)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18128907..18148189)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin XVA Neighboring gene uncharacterized LOC105371567 Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene FLII actin remodeling protein Neighboring gene mitochondrial elongation factor 2 Neighboring gene DNA topoisomerase III alpha Neighboring gene ribosomal protein L7a pseudogene 65

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Rab GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    myosin II binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi to plasma membrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cortical actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of establishment or maintenance of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi cis cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    lethal(2) giant larvae protein homolog 1
    Names
    LLGL1, scribble cell polarity complex component
    human homolog to the D-lgl gene protein
    lethal giant larvae homolog 1, scribble cell polarity complex component

    NCBI Reference Sequences (RefSeq)

    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_004140.4NP_004131.4  lethal(2) giant larvae protein homolog 1

      Status: REVIEWED

      Source sequence(s)
      AC109515, AC127537
      Consensus CDS
      CCDS32586.1
      Related
      ENSP00000321537.4, ENST00000316843.9
      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      18225593..18244875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523854.2XP_011522156.1  lethal(2) giant larvae protein homolog 1 isoform X6

      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    2. XM_011523849.2XP_011522151.1  lethal(2) giant larvae protein homolog 1 isoform X1

      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    3. XM_011523853.2XP_011522155.1  lethal(2) giant larvae protein homolog 1 isoform X5

      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    4. XM_011523852.2XP_011522154.1  lethal(2) giant larvae protein homolog 1 isoform X4

      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    5. XM_011523855.2XP_011522157.1  lethal(2) giant larvae protein homolog 1 isoform X7

      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    6. XM_011523851.2XP_011522153.1  lethal(2) giant larvae protein homolog 1 isoform X3

      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    7. XM_011523856.1XP_011522158.1  lethal(2) giant larvae protein homolog 1 isoform X8

      Related
      ENSP00000480006.1, ENST00000621229.1
      Conserved Domains (1) summary
      pfam08366
      Location:280379
      LLGL; LLGL2
    8. XM_011523850.2XP_011522152.1  lethal(2) giant larvae protein homolog 1 isoform X2

      Conserved Domains (1) summary
      pfam08366
      Location:279378
      LLGL; LLGL2

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_017363819.1 Reference GRCh38.p13 PATCHES

      Range
      951..5249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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