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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LLGL1 Gene

protein-coding   GIFtS: 61
GCID: GC17P018128

lethal giant larvae homolog 1 (Drosophila)

(Previous name: lethal giant larvae (Drosophila) homolog 1 )
(Previous symbols: DLG4, LLGL, HUGL, HUGL-1)
 Explore 7 diseases affiliated with
LLGL1 via our new
 Human Malady Compendium 
Biological research products
for LLGL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Lethal Giant Larvae Homolog 1 (Drosophila)1 2     Human Homolog To The D-Lgl Gene Protein2 3
DLG41 2 3 5     HUGL12 3
HUGL1 2 3     Lethal Giant Larvae (Drosophila) Homolog 11
LLGL1 2 3     Lethal(2) Giant Larvae Protein Homolog 12
HUGL-11 2     Hugl-13

External Ids:    HGNC: 66281   Entrez Gene: 39962   Ensembl: ENSG000001318997   OMIM: 6009665   UniProtKB: Q153343   

Export aliases for LLGL1 gene to outside databases

Previous GC identifers: GC17P018374 GC17P019502 GC17P018071 GC17P018329 GC17P018069 GC17P017886


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LLGL1:
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)

UniProtKB/Swiss-Prot: L2GL1_HUMAN, Q15334
Function: Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial
integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue
organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular
membrane trafficking toward the axonal plasma membrane

Gene Wiki entry for LLGL1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LLGL1 gene promoter:
         RFX1   Pax-5   HOXA3   AML1a   Tal-1   GATA-3   FOXD1   E47   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLLGL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LLGL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LLGL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

LLGL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LLGL1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P018128:  view genomic region     (about GC identifiers)

Start:
18,128,901 bp from pter      End:
18,148,189 bp from pter
Size:
19,289 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: L2GL1_HUMAN, Q15334 (See protein sequence)
Recommended Name: Lethal(2) giant larvae protein homolog 1  
Size: 1064 amino acids; 115418 Da
Subunit: Associated with nonmuscle myosin II heavy chain. Interacts with PRKCI/aPKC, PARD6B/Par-6 and PARD6A. Interacts
with STX4A (By similarity). Interacts with RAB10 (GDP-bound form); the interaction is direct and promotes RAB10
association with membranes and activation through competition with the Rab inhibitor GDI1 (By similarity)
Subcellular location: Early endosome membrane (By similarity). Golgi apparatus, trans-Golgi network membrane (By
similarity). Golgi apparatus membrane (By similarity). Cell projection, axon (By similarity). Cytoplasm, cytoskeleton.
Note=Localized to the lateral membrane during the polarization and formation cell-cell contacts. Enriched in
developping axons (By similarity)
Miscellaneous: Down-regulation of LLGL1 is associated with the progression of colorectal cancer and melanoma. Located
within the Smith-Magenis syndrome region on chromosome 17; deleted in patients with this syndrome
Miscellaneous: Expression increases cell adhesion and decreases cell migration. Substitutes for Drosophila l(2)gl tumor
suppressor function in vivo
Sequence caution: Sequence=BAA19516.1; Type=Frameshift; Positions=205, 216, 737, 740, 794, 799, 866, 872, 881, 945,
968, 1024;
Secondary accessions: A7MBM7 O00188 Q58F11 Q86UK6

Explore the universe of human proteins at neXtProt for LLGL1: NX_Q15334

Post-translational modifications:

  • Phosphorylated at least at Ser-663 by PRKCI1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15334

  • LLGL1 Protein expression data from MOPED and PaxDb:    About this image 
    LLGL1 Protein Expression
    REFSEQ proteins: NP_004131.3  
    ENSEMBL proteins: 
     ENSP00000321537  

    Human Recombinant Protein Products for LLGL1: 
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    Uscn Proteins for LLGL1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000137Golgi cis cisterna ISS--
    GO:0000139Golgi membrane IEA--
    GO:0005737cytoplasm IDA7542763
    GO:0005856cytoskeleton TAS7542763
    GO:0030424colocalizes with axon ISS--

    LLGL1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LLGL1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR019775 WD40_repeat_CS
     IPR013577 LLGL2
     IPR001680 WD40_repeat
     IPR000664 Lethal2_giant
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q15334

    ProtoNet protein and cluster: Q15334

    1 Blocks protein family: IPB000664 Lethal(2) giant larvae protein signature

    UniProtKB/Swiss-Prot: L2GL1_HUMAN, Q15334
    Similarity: Belongs to the WD repeat L(2)GL family
    Similarity: Contains 14 WD repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: L2GL1_HUMAN, Q15334
    Function: Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial
    integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue
    organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular
    membrane trafficking toward the axonal plasma membrane

         Genatlas biochemistry entry for LLGL1:
    Drosophila tumor suppressor gene lethal (2) giant larvae (115kDa) homolog,deleted in Smith-Magenis syndrome

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity ISS--
    GO:0005198structural molecule activity TAS7542763
    GO:0005515protein binding IPI7542763
    GO:0019901protein kinase binding IDA7542763
         
    LLGL1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Llgl1):
     cardiovascular system  cellular  craniofacial  embryogenesis  mortality/aging 
     nervous system  skeleton 

    LLGL1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Llgl1tm1.1Vv for LLGL1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LLGL1 

    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate LLGL1 (see all 16):
    hsa-miR-495 hsa-miR-362-3p hsa-miR-16-2* hsa-miR-139-5p hsa-miR-16-1* hsa-miR-7-1* hsa-miR-889 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidLLGL1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LLGL1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    2Tight junction
    Tight junction1.00
    3Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    4Actin Nucleation by ARP-WASP Complex
    CDC42 Pathway0.34

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LLGL1
        Epithelial Tight Junctions
    CDC42 Pathway

    1 Cell Signaling Technology (CST) Pathway for LLGL1
        Cytoskeletal Signaling


    1         Kegg Pathway  (Kegg details for LLGL1):
        Tight junction


    LLGL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for LLGL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/28 Interacting proteins for LLGL1 (Q153342, 3 ENSP000003215374) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACDQ96AP02, 3, ENSP000003774964MINT-65112 I2D: score=4 STRING: ENSP00000377496
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=3 STRING: ENSP00000368797
    MYH10P355803, ENSP000002692434I2D: score=3 STRING: ENSP00000269243
    SQSTM1Q135013, ENSP000003744554I2D: score=3 STRING: ENSP00000374455
    CD46P155293, ENSP000003138754I2D: score=2 STRING: ENSP00000313875
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly IDA7542763
    GO:0006887exocytosis IEA--
    GO:0006893Golgi to plasma membrane transport ISS--
    GO:0007409axonogenesis ISS--
    GO:0030866cortical actin cytoskeleton organization IDA7542763

    LLGL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LLGL1
    Search CenterWatch for drugs/clinical trials and news about LLGL1 / L2GL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LLGL1 gene: 
    NM_004140.3  

    Unigene Cluster for LLGL1:

    Lethal giant larvae homolog 1 (Drosophila)
    Hs.513983  [show with all ESTs]
    Unigene Representative Sequence: NM_004140
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000316843(uc002gsp.3) ENST00000479155

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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate LLGL1 (see all 16):
    hsa-miR-495 hsa-miR-362-3p hsa-miR-16-2* hsa-miR-139-5p hsa-miR-16-1* hsa-miR-7-1* hsa-miR-889 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidLLGL1 3' UTR sequence
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    Additional cDNA sequence: 

    BC028037.1 BC028214.1 BC151838.1 

    8 DOTS entries:

    DT.101981432  DT.120997780  DT.95270197  DT.95291769  DT.91671937  DT.75169954  DT.120997748  DT.120997769 

    24/465 AceView cDNA sequences (see all 465):

    AI992008 BM764393 AI242805 BF432071 AI302321 BM767633 BM766674 BM767576 
    BC028037 BM997112 BM767580 AI279597 AI937622 AW341164 AA495948 BQ899215 
    BM767653 AI140129 AW341144 AI130980 BM766617 BM844782 AI417829 AI698008 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for LLGL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:                                                                                                                                                
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                


    ECgene alternative splicing isoforms for LLGL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LLGL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATGTGACTG
    LLGL1 Expression
    About this image
    See LLGL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LLGL1

    SOURCE GeneReport for Unigene cluster: Hs.513983

    UniProtKB/Swiss-Prot: L2GL1_HUMAN, Q15334
    Tissue specificity: Expressed in brain, kidney, and muscle but is barely seen in heart and placenta. Down-regulated or
    lost in all cell lines and in most of the tumor samples analyzed. Loss was associated with advanced stage of the
    disease

        SABiosciences Expression via Pathway-Focused PCR Arrays including LLGL1: 
              Cytoskeleton Regulators in human mouse rat
              Tight Junctions in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LLGL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LLGL1 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LLGL11 lethal giant larvae homolog 1 (Drosophila) 75.48(n)
    74.95(a)
      100858027  XM_003642145.1  XP_003642193.1 
    lizard
    (Anolis carolinensis)
    Reptilia LLGL16
    --
    74(a)
    1 ↔ 1
    GL343618.1(95690-127888)
    zebrafish
    (Danio rerio)
    Actinopterygii llgl16
    lethal giant larvae homolog 1 (Drosophila)
    70(a)
    1 ↔ 1
    3(39965137-40049531)
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)gl1 , 3 TGFbeta receptor signaling pathway myosin
    binding3
    lethal (2) giant larvae1
    37(a)3
    46.85(n)1
    41.16(a)1
      2 21A23
    331561  NM_164349.21  NP_722584.11 


    ENSEMBL Gene Tree for LLGL1 (if available)
    TreeFam Gene Tree for LLGL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LLGL1 gene
    LLGL22  STXBP52  STXBP5L2  
    3 SIMAP similar genes for LLGL1 using alignment to 2 protein entries:     L2GL1_HUMAN (see all proteins):
    LLGL2    STXBP5L    STXBP5

    LLGL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/426 NCBI SNPs in LLGL1 are shown (see all 426    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1928823371,2
    --18126942(+) CTGGAC/GAGCAA 1 -- us2k10--------
    rs1849406091,2
    --18126965(+) CACTGA/CAAGCT 1 -- us2k10--------
    rs1427167681,2
    --18127117(+) CCCGCC/TTCAGC 1 -- us2k10--------
    rs1444906831,2
    --18127133(+) AAAGCA/GCTGGG 1 -- us2k10--------
    rs1484407921,2
    --18127424(+) CAAGGC/TCTCCC 1 -- us2k10--------
    rs1148617911,2
    --18127565(+) GGCCAG/ATGGCC 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs753488851,2
    F--18127592(+) CCTCAG/ATCCAG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs620725011,2
    C--18127688(+) GCTACT/CGNNNN 1 -- us2k12Minor allele frequency- C:0.07NA 122
    rs1170344941,2
    C,F--18127697(+) AGCACT/AAAGTC 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1428980761,2
    C--18127769(+) ACTGTC/TGTCAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for LLGL1 (18128901 - 18148189 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for LLGL1
         2 CNVs: 72809 30807
         1 Inversion: 0495
    Human Gene Mutation Database (HGMD): LLGL1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    LLGL1 for disorders           About GeneDecksing

    OMIM gene information: 600966    OMIM disorders: --

    7 diseases for LLGL1:    About MalaCards
    smith-magenis syndrome    macular degeneration    endometrial cancer    colorectal cancer
    ataxia    melanoma    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: LLGL1 (3 documents)

    Export disorders for LLGL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for LLGL1 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with LLGL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human homologue of the Drosophila tumour suppressor gene l(2)gl maps to 17p11.2-12 and codes for a cytoskeletal protein that associates with nonmuscle myosin II heavy chain. (PubMed id 7542763)1, 2, 3, 9 Strand D.J.... Mechler B. (1995)
    2. The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. (PubMed id 8565641)1, 2, 3 Koyama K....Nakamura Y. (1996)
    3. Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer. (PubMed id 15735678)1, 2, 9 Schimanski C.C....Strand D. (2005)
    4. Expression of Hugl-1 is strongly reduced in malignant melanoma. (PubMed id 16170365)1, 2 Kuphal S.... Bosserhoff A.K. (2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity. (PubMed id 12725730)1, 2 Yamanaka T.... Ohno S. (2003)
    7. aPKCzeta cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia. (PubMed id 17369850)1, 9 Grifoni D....Pession A. (2007)
    8. Preservation of HUGL-1 expression as a favourable prog nostic factor in pancreatic carcinoma. (PubMed id 22843887)1 Biesterfeld S....Galle P.R. (2012)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3996 HGNC: 6628 AceView: LLGL1 Ensembl:ENSG00000131899 euGenes: HUgn3996
    ECgene: LLGL1 Kegg: 3996 H-InvDB: LLGL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for LLGL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for LLGL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LLGL1 gene:
    Search GeneIP for patents involving LLGL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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