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

Gene ID: 3996, updated on 13-Dec-2020

Summary

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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
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Genomic context

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See LLGL1 in Genome Data Viewer
Location:
17p11.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20201120 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Reduced Expression of Hugl 1 Contributes to the Progression of Lung Squamous Cell Carcinoma. Matsuzaki T, et al. Tokai J Exp Clin Med, 2015 Dec 20. PMID 26662669
  2. Hugl-1 inhibits glioma cell growth in intracranial model. Liu X, et al. J Neurooncol, 2015 Oct. PMID 26341367
  3. Inhibition of glioblastoma malignancy by Lgl1. Gont A, et al. Oncotarget, 2014 Nov 30. PMID 25426552, Free PMC Article
  4. Hugl-1 induces apoptosis in esophageal carcinoma cells both in vitro and in vivo. Song J, et al. World J Gastroenterol, 2013 Jul 14. PMID 23864775, Free PMC Article
  5. Preservation of HUGL-1 expression as a favourable prognostic factor in pancreatic carcinoma. Biesterfeld S, et al. Anticancer Res, 2012 Aug. PMID 22843887

See all (68) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LLGL1 is coexpressed with E-cadherin; loss of expression of either protein is associated with diffuse gastric cancer and peritoneal metastases.
    Title: Loss of <i>LLGL1</i> Expression Correlates with Diffuse Gastric Cancer and Distant Peritoneal Metastases.
  2. loss of Llgl1 results in EGFR mislocalization, promoting pre-neoplastic changes
    Title: Llgl1 prevents metaplastic survival driven by epidermal growth factor dependent migration.
  3. these results revealed that miR-652-3p execute a tumor-promoter function in non-small cell lung cancer through direct binding and regulating the expression of Lgl1
    Title: MiR-652-3p is upregulated in non-small cell lung cancer and promotes proliferation and metastasis by directly targeting Lgl1.
  4. Older age is a strong predictor of CNS involvement in patients seropositive for CASPR2-IgG or LGI1-IgG. Pain, peripheral manifestations, and stereotypic paroxysmal dizziness spells are common with LGI1-IgG.
    Title: Expanded phenotypes and outcomes among 256 LGI1/CASPR2-IgG-positive patients.
  5. Reduced expression of Hugl 1 predicts poor survival in lung SqCC patients. The expression of Hugl 1 was inversely correlated with both overall survival rate and tumor stage.
    Title: Reduced Expression of Hugl 1 Contributes to the Progression of Lung Squamous Cell Carcinoma.
  6. Our results support the growing appreciation that the tumour regulatory functions of Scribble, and other polarity protein family members, are context dependent.
    Title: Scribble acts as an oncogene in Eμ-myc-driven lymphoma.
  7. this study provides the evidence that Hugl-1 inhibits glioma cell growth in intracranial model of nude mice, suggesting that Hugl-1 might be a potential tumor target for glioma therapy.
    Title: Hugl-1 inhibits glioma cell growth in intracranial model.
  8. Lgl1 has a role in inhibiting glioblastoma
    Title: Inhibition of glioblastoma malignancy by Lgl1.
  9. PTEN loss leads to the phosphorylation and inactivation of Lgl by atypical protein kinase C in glioblastoma cells.
    Title: PTEN loss represses glioblastoma tumor initiating cell differentiation via inactivation of Lgl1.
  10. Suggest that Hugl-1 induces growth suppression and apoptosis in a human esophageal squamous cell carcinoma cell line both in vitro and in vivo.
    Title: Hugl-1 induces apoptosis in esophageal carcinoma cells both in vitro and in vivo.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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
  
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 
regulation of protein secretion 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

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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)

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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_004140.4 → NP_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:280 → 379
    LLGL; LLGL2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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_011523854.2 → XP_011522156.1  lethal(2) giant larvae protein homolog 1 isoform X6

    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  2. XM_011523849.2 → XP_011522151.1  lethal(2) giant larvae protein homolog 1 isoform X1

    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  3. XM_011523853.2 → XP_011522155.1  lethal(2) giant larvae protein homolog 1 isoform X5

    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  4. XM_011523852.2 → XP_011522154.1  lethal(2) giant larvae protein homolog 1 isoform X4

    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  5. XM_011523855.2 → XP_011522157.1  lethal(2) giant larvae protein homolog 1 isoform X7

    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  6. XM_011523851.2 → XP_011522153.1  lethal(2) giant larvae protein homolog 1 isoform X3

    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  7. XM_011523856.1 → XP_011522158.1  lethal(2) giant larvae protein homolog 1 isoform X8

    Related
    ENSP00000480006.1, ENST00000621229.1
    Conserved Domains (1) summary
    pfam08366
    Location:280 → 379
    LLGL; LLGL2

  8. XM_011523850.2 → XP_011522152.1  lethal(2) giant larvae protein homolog 1 isoform X2

    Conserved Domains (1) summary
    pfam08366
    Location:279 → 378
    LLGL; LLGL2

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017363819.1 Reference GRCh38.p13 PATCHES

    Range
    951..5249
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15334.3 GenPept UniProtKB/Swiss-Prot:Q15334

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