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

LLGL1 Gene

protein-coding   GIFtS: 63
GCID: GC17P018128

Lethal Giant Larvae Homolog 1 (Drosophila)

(Previous name: lethal giant larvae (Drosophila) homolog 1)
(Previous symbols: DLG4, LLGL, HUGL, HUGL-1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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 Gene:
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)

GeneCards Summary for LLGL1 Gene: 
LLGL1 (lethal giant larvae homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with LLGL1 include smith magenis syndrome, and macular degeneration, and among its related super-pathways are Actin Nucleation and Branching and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include Rab GTPase activator activity and protein kinase binding. An important paralog of this gene is STXBP5.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for LLGL1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated at least at Ser-663 by PRKCI
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15334

  • LLGL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LLGL1 Protein Expression
    REFSEQ proteins: NP_004131.3  
    ENSEMBL proteins: 
     ENSP00000321537  

    Human Recombinant Protein Products for LLGL1: 
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    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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR000664 Lethal2_giant
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q15334

    ProtoNet protein and cluster: Q15334

    1 Blocks protein domain: 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


    LLGL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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:
         MGI mouse knock-out Llgl1tm1.1Vv for LLGL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LLGL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LLGL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LLGL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LLGL1 

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    SwitchGear 3'UTR luciferase reporter plasmidLLGL1 3' UTR sequence
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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, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LLGL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Actin Nucleation by ARP-WASP Complex
    CDC42 Pathway0.41
    2Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions0.36
    3Tight junction
    Tight junction
    4Hippo signaling pathway
    Hippo signaling pathway
    5Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    2         Kegg Pathways  (Kegg details for LLGL1):
        Hippo signaling pathway
    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, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for LLGL1 (L2GL1)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    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
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    Additional mRNA 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):

    BM844782 AI095462 BM767871 AI865684 AI915616 BF439263 BC028037 BM767842 
    BM767824 BM767685 BM766645 BM767687 AI964082 AI744685 BM766621 BC028214 
    AI992008 BM767748 BM767580 BM845131 AI033746 BM767898 AI698008 BM767695 

    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)      LLGL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGTGACTG
    LLGL1 Expression
    About this image


    LLGL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             umbilical cord reticulocytes   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   

    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 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Llgl11 , 5 lethal giant larvae homolog 1 (Drosophila)1, 5 85.11(n)1
    90.39(a)1
      11 (37.81 cM)5
    168971  NM_001159405.11  NP_001152877.11 
     606997235 
    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
    lethal giant larvae homolog 1 (Drosophila)
    74(a)
    1 ↔ 1
    GL343618.1(68699-128930)
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea F56F10.43   -- 20(a)   X(900385-906306)   --


    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
    STXBP52  LLGL22  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, 4UniProtKB, 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

    10/612 SNPs in LLGL1 are shown (see all 612)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0587104
    ----see VAR_0587102 S G mis40--------
    rs1928823371,2
    --18126942(+) CTGGAC/GAGCAA 1 -- us2k10--------
    rs1849406091,2
    --18126965(+) CACTGA/CAAGCT 1 -- us2k10--------
    rs1427167681,2
    C--18127117(+) CCCGCC/TTCAGC 1 -- us2k10--------
    rs1444906831,2
    --18127133(+) AAAGCA/GCTGGG 1 -- us2k10--------
    rs1484407921,2
    --18127424(+) CAAGGC/TCTCCC 1 -- us2k10--------
    rs1148617911,2
    F--18127565(+) GGCCAG/ATGGCC 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs753488851,2
    C,F--18127592(+) CCTCAG/ATCCAG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs620725011,2
    C--18127688(+) GCTACT/CGACAG 1 -- us2k12Minor allele frequency- C:0.07NA 122
    rs1170344941,2
    C,F--18127697(+) AGCACT/AAAGTC 1 -- us2k11Minor allele frequency- A:0.03EA 120

    HapMap Linkage Disequilibrium report for LLGL1 (18128901 - 18148189 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for LLGL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv907777CNV Loss21882294
    nsv907776CNV Loss21882294
    dgv3078n71CNV Loss21882294
    esv27526CNV Loss19812545
    nsv9503CNV Gain18304495
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241


    Human Gene Mutation Database (HGMD): LLGL1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LLGL1
    DNA2.0 Custom Variant and Variant Library Synthesis for LLGL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600966    OMIM disorders: --

    6 diseases for LLGL1:    About MalaCards
    smith magenis syndrome    macular degeneration    ataxia    colorectal cancer
    melanoma    pancreatitis


    LLGL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): LLGL1
    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 34):
    (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. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Expression of Hugl-1 is strongly reduced in malignant melanoma. (PubMed id 16170365)1, 2 Kuphal S.... Bosserhoff A.K. (2006)
    6. 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)
    7. 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)
    8. 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)
    9. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    10. The cell fate determinant Llgl1 influences HSC fitness and prognosis in AML. (PubMed id 23277453)1 Heidel F.H....Armstrong S.A. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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