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Llgl1 LLGL1 scribble cell polarity complex component [ Mus musculus (house mouse) ]

Gene ID: 16897, updated on 9-May-2024

Summary

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Official Symbol
Llgl1provided by MGI
Official Full Name
LLGL1 scribble cell polarity complex componentprovided by MGI
Primary source
MGI:MGI:102682
See related
Ensembl:ENSMUSG00000020536 AllianceGenome:MGI:102682
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Lgl1; Mgl1; Llglh
Summary
Predicted to enable GTPase activator activity; enzyme binding activity; and myosin II binding activity. Acts upstream of or within maintenance of apical/basal cell polarity. Located in several cellular components, including basolateral plasma membrane; cytoskeleton; and myelin sheath abaxonal region. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human LLGL1 (LLGL scribble cell polarity complex component 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 58.0), thymus adult (RPKM 46.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 B2; 11 37.81 cM
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (60590501..60605012)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (60699672..60714186)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein, cytoplasmic 4 pseudogene Neighboring gene Uba52 pseudogene Neighboring gene STARR-seq mESC enhancer starr_29656 Neighboring gene flightless I actin binding protein Neighboring gene STARR-positive B cell enhancer ABC_E2991 Neighboring gene microRNA 5100 Neighboring gene mitochondrial elongation factor 2 Neighboring gene predicted gene, 23341

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Deletion of Smooth Muscle Lethal Giant Larvae 1 Promotes Neointimal Hyperplasia in Mice. Zhang Y, et al. Front Pharmacol, 2022. PMID 35140622, Free PMC Article
  2. LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea. Bae SH, et al. Hear Res, 2021 Dec. PMID 34735822
  3. Apical-Basal Polarity Signaling Components, Lgl1 and aPKCs, Control Glutamatergic Synapse Number and Function. Scott J, et al. iScience, 2019 Oct 25. PMID 31546104, Free PMC Article
  4. Lethal giant larvae-1 deficiency enhances the CD8(+) effector T-cell response to antigen challenge in vivo. Ramsbottom KM, et al. Immunol Cell Biol, 2016 Mar. PMID 26391810
  5. Lethal giant larvae 1 tumour suppressor activity is not conserved in models of mammalian T and B cell leukaemia. Hawkins ED, et al. PLoS One, 2014. PMID 24475281, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Role of LGL1 in cerebellar primordium of embryonic mice.
    Title: Role of LGL1 in cerebellar primordium of embryonic mice.
  2. LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea.
    Title: LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea.
  3. LGL1 binds to Integrin beta1 and inhibits downstream signaling to promote epithelial branching in the mammary gland.
    Title: LGL1 binds to Integrin β1 and inhibits downstream signaling to promote epithelial branching in the mammary gland.
  4. Lethal giant larvae 1 inhibits smooth muscle calcification via high mobility group box 1.
    Title: Lethal giant larvae 1 inhibits smooth muscle calcification via high mobility group box 1.
  5. Bleomycin induced apical-basal polarity loss in alveolar epithelial cell contributes to experimental pulmonary fibrosis.
    Title: Bleomycin induced apical-basal polarity loss in alveolar epithelial cell contributes to experimental pulmonary fibrosis.
  6. Lgl1-/- mice exhibited reduced size of the hippocampus and impaired cognitive performance.
    Title: Lgl1 deficiency disrupts hippocampal development and impairs cognitive performance in mice.
  7. Study concludes that lethal giant larvae 1 is essential for radial glial cell development and neural migration during cerebral cortex development.
    Title: Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice.
  8. Study showed that Lgl bound with aPKC and PAR-6B competing against PAR-3A in PAR complex which resulted in pleural mesothelial cell (PMCs) polarity loss, and Lgl1 knockdown maintained the PMC polarity and attenuated pleural fibrosis.
    Title: Lethal (2) giant larvae regulates pleural mesothelial cell polarity in pleural fibrosis.
  9. Data establish Lgl1 as a suppressor of gliomagenesis and positive regulator of asymmetric division and differentiation in the healthy and demyelinated murine brain.
    Title: Lgl1 controls NG2 endocytic pathway to regulate oligodendrocyte differentiation and asymmetric cell division and gliomagenesis.
  10. Ablation of Llgl1 gene Results in Severe Brain Malformation.
    Title: Llgl1 Connects Cell Polarity with Cell-Cell Adhesion in Embryonic Neural Stem Cells.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (2)  1 citation

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 MGI

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables myosin II binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
  
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in Golgi to plasma membrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Golgi to plasma membrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in axonogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in brain development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cortical actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cortical actin cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
involved_in establishment of spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within exocytosis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within maintenance of apical/basal cell polarity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of establishment or maintenance of cell polarity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi cis cisterna ISO
Inferred from Sequence Orthology
more info
  
colocalizes_with axon ISO
Inferred from Sequence Orthology
more info
  
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cortical actin cytoskeleton ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in myelin sheath abaxonal region IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
lethal(2) giant larvae protein homolog 1
Names
LLGL
lethal giant larvae homolog 1
mgl-1
mlgl

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_001159404.2 → NP_001152876.1  lethal(2) giant larvae protein homolog 1 isoform 3

    See identical proteins and their annotated locations for NP_001152876.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice pattern in the 3' coding region and an alternate splice site in the central coding region, compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus and lacks an internal two aa segment, compared to isoform 1.
    Source sequence(s)
    AL596215
    Consensus CDS
    CCDS48813.1
    UniProtKB/Swiss-Prot
    Q61856, Q7TNV3, Q80Y17, Q8BN92
    Related
    ENSMUSP00000104359.4, ENSMUST00000108719.4
    Conserved Domains (3) summary
    COG2319
    Location:195 → 310
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:279 → 378
    LLGL; LLGL2
    sd00039
    Location:38 → 73
    7WD40; WD40 repeat [structural motif]

  2. NM_001159405.2 → NP_001152877.1  lethal(2) giant larvae protein homolog 1 isoform 1

    See identical proteins and their annotated locations for NP_001152877.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL596215
    Consensus CDS
    CCDS48812.1
    UniProtKB/TrEMBL
    A0A0R4J0S4
    Related
    ENSMUSP00000060749.4, ENSMUST00000052346.10
    Conserved Domains (3) summary
    COG2319
    Location:195 → 310
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:279 → 378
    LLGL; LLGL2
    sd00039
    Location:38 → 73
    7WD40; WD40 repeat [structural motif]

  3. NM_001378836.1 → NP_001365765.1  lethal(2) giant larvae protein homolog 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL596215
    Conserved Domains (2) summary
    sd00039
    Location:38 → 73
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:277 → 377
    LLGL; LLGL2

  4. NM_001378837.1 → NP_001365766.1  lethal(2) giant larvae protein homolog 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL596215
    Conserved Domains (2) summary
    sd00039
    Location:38 → 73
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:277 → 377
    LLGL; LLGL2

  5. NM_008502.3 → NP_032528.1  lethal(2) giant larvae protein homolog 1 isoform 2

    See identical proteins and their annotated locations for NP_032528.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL596215
    UniProtKB/Swiss-Prot
    Q80Y17
    Conserved Domains (3) summary
    COG2319
    Location:195 → 310
    WD40; WD40 repeat [General function prediction only]
    pfam08366
    Location:279 → 378
    LLGL; LLGL2
    sd00039
    Location:38 → 73
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_166135.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596215

  2. NR_166136.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596215

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    60590501..60605012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030245613.2 → XP_030101473.1  lethal(2) giant larvae protein homolog 1 isoform X2

    Conserved Domains (1) summary
    pfam08366
    Location:1 → 68
    LLGL; LLGL2

  2. XM_036156363.1 → XP_036012256.1  lethal(2) giant larvae protein homolog 1 isoform X1

    Conserved Domains (2) summary
    sd00039
    Location:139 → 191
    7WD40; WD40 repeat [structural motif]
    pfam08366
    Location:235 → 335
    LLGL; LLGL2

  3. XM_036156364.1 → XP_036012257.1  lethal(2) giant larvae protein homolog 1 isoform X3

    Conserved Domains (1) summary
    pfam08366
    Location:1 → 68
    LLGL; LLGL2
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80Y17.1 GenPept UniProtKB/Swiss-Prot:Q80Y17

Gene LinkOut

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