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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of LGL1 in cerebellar primordium of embryonic mice.
Title: Role of LGL1 in cerebellar primordium of embryonic mice.
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.
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.
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.
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.
Lgl1-/- mice exhibited reduced size of the hippocampus and impaired cognitive performance.
Title: Lgl1 deficiency disrupts hippocampal development and impairs cognitive performance in mice.
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.
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.
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.
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

Llgl1 (e-PCR), detects polymorphism
- UniSTS:507030

Llglh (e-PCR), detects polymorphism
- UniSTS:143781

D11Jpk2 (e-PCR), detects polymorphism
- UniSTS:141756

AI325176 (e-PCR)
- UniSTS:180216

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)

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]
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]
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
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
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

NR_166135.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL596215
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

60590501..60605012

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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