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

    Gene ID: 3996, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:6628
    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
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18225635..18244875)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (18172434..18191679)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (18128949..18148189)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin XVA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18056260-18056783 Neighboring gene uncharacterized LOC105371567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18070429-18070930 Neighboring gene Sharpr-MPRA regulatory region 12190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18087137-18087974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8269 Neighboring gene alkB homolog 5, RNA demethylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18133833-18134668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18134669-18135502 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18150319-18150870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18151421-18151970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18160018-18160684 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:18161423-18161924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18164285-18164905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18164906-18165525 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18170617-18171210 Neighboring gene FLII actin remodeling protein Neighboring gene mitochondrial elongation factor 2 Neighboring gene DNA topoisomerase III alpha Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18200470-18201168 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. Inhibition of glioblastoma malignancy by Lgl1. Gont A, et al. Oncotarget, 2014 Nov 30. PMID 25426552, Free PMC Article
    2. LLGL1 Regulates Gemcitabine Resistance by Modulating the ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma. Zhu YX, et al. Cell Mol Gastroenterol Hepatol, 2020. PMID 32615164, Free PMC Article
    3. 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
    4. Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer. Schimanski CC, et al. Oncogene, 2005 Apr 28. PMID 15735678
    5. Expression of Hugl-1 is strongly reduced in malignant melanoma. Kuphal S, et al. Oncogene, 2006 Jan 5. PMID 16170365

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl.
      Title: Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl.
    2. LLGL1 Regulates Gemcitabine Resistance by Modulating the ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma.
      Title: LLGL1 Regulates Gemcitabine Resistance by Modulating the ERK-SP1-OSMR Pathway in Pancreatic Ductal Adenocarcinoma.
    3. Scribble, Lgl1, and myosin II form a complex in vivo to promote directed cell migration.
      Title: Scribble, Lgl1, and myosin II form a complex in vivo to promote directed cell migration.
    4. [MiR-665 Promotes the Biological Behavior of Small Cell Lung Cancer by Targeting LLGL1].
      Title: [MiR-665 Promotes the Biological Behavior of Small Cell Lung Cancer by Targeting LLGL1].
    5. LLGL1 is coexpressed with E-cadherin; loss of expression of either protein is associated with diffuse gastric cancer and peritoneal metastases.
      Title: Loss of LLGL1 Expression Correlates with Diffuse Gastric Cancer and Distant Peritoneal Metastases.
    6. loss of Llgl1 results in EGFR mislocalization, promoting pre-neoplastic changes
      Title: Llgl1 prevents metaplastic survival driven by epidermal growth factor dependent migration.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    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)

    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
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables myosin II binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cortical actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cortical actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in establishment of spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment or maintenance of epithelial cell apical/basal polarity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cis cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in adherens junction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in early endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in 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
      UniProtKB/Swiss-Prot
      A7MBM7, O00188, Q15334, Q58F11, Q86UK6
      Related
      ENSP00000321537.4, ENST00000316843.9
      Conserved Domains (1) summary
      pfam08366
      Location:280 → 379
      LLGL; LLGL2

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18225635..18244875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523854.3 → XP_011522156.1  lethal(2) giant larvae protein homolog 1 isoform X7

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

    2. XM_011523849.3 → XP_011522151.1  lethal(2) giant larvae protein homolog 1 isoform X1

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

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

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

    4. XM_011523852.3 → XP_011522154.1  lethal(2) giant larvae protein homolog 1 isoform X4

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

    5. XM_011523855.3 → XP_011522157.1  lethal(2) giant larvae protein homolog 1 isoform X13

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

    6. XM_047436004.1 → XP_047291960.1  lethal(2) giant larvae protein homolog 1 isoform X9

    7. XM_011523851.3 → XP_011522153.1  lethal(2) giant larvae protein homolog 1 isoform X3

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

    8. XM_047436006.1 → XP_047291962.1  lethal(2) giant larvae protein homolog 1 isoform X12

    9. XM_047436003.1 → XP_047291959.1  lethal(2) giant larvae protein homolog 1 isoform X8

    10. XM_047436008.1 → XP_047291964.1  lethal(2) giant larvae protein homolog 1 isoform X15

    11. XM_011523856.2 → XP_011522158.2  lethal(2) giant larvae protein homolog 1 isoform X11

    12. XM_011523850.3 → XP_011522152.1  lethal(2) giant larvae protein homolog 1 isoform X2

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

    13. XM_047436002.1 → XP_047291958.1  lethal(2) giant larvae protein homolog 1 isoform X6

    14. XM_047436007.1 → XP_047291963.1  lethal(2) giant larvae protein homolog 1 isoform X14

    15. XM_047436005.1 → XP_047291961.1  lethal(2) giant larvae protein homolog 1 isoform X10

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017363819.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      18172434..18191679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316098.1 → XP_054172073.1  lethal(2) giant larvae protein homolog 1 isoform X7

    2. XM_054316092.1 → XP_054172067.1  lethal(2) giant larvae protein homolog 1 isoform X1

    3. XM_054316096.1 → XP_054172071.1  lethal(2) giant larvae protein homolog 1 isoform X5

    4. XM_054316095.1 → XP_054172070.1  lethal(2) giant larvae protein homolog 1 isoform X4

    5. XM_054316104.1 → XP_054172079.1  lethal(2) giant larvae protein homolog 1 isoform X13

    6. XM_054316100.1 → XP_054172075.1  lethal(2) giant larvae protein homolog 1 isoform X9

    7. XM_054316094.1 → XP_054172069.1  lethal(2) giant larvae protein homolog 1 isoform X3

    8. XM_054316103.1 → XP_054172078.1  lethal(2) giant larvae protein homolog 1 isoform X12

    9. XM_054316099.1 → XP_054172074.1  lethal(2) giant larvae protein homolog 1 isoform X8

    10. XM_054316106.1 → XP_054172081.1  lethal(2) giant larvae protein homolog 1 isoform X15

    11. XM_054316102.1 → XP_054172077.1  lethal(2) giant larvae protein homolog 1 isoform X11

    12. XM_054316093.1 → XP_054172068.1  lethal(2) giant larvae protein homolog 1 isoform X2

    13. XM_054316097.1 → XP_054172072.1  lethal(2) giant larvae protein homolog 1 isoform X6

    14. XM_054316105.1 → XP_054172080.1  lethal(2) giant larvae protein homolog 1 isoform X14

    15. XM_054316101.1 → XP_054172076.1  lethal(2) giant larvae protein homolog 1 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15334.3 GenPept UniProtKB/Swiss-Prot:Q15334

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