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FLASH GENE
Symbol LLGL1 contributors: mct/npt - updated : 10-03-2010
HGNC name lethal giant larvae homolog 1 (Drosophila)
HGNC id 6628
Location 17p11.2      Physical location : 18.128.935 - 18.148.186
Synonym name human homolog to the D-lgl gene protein
Synonym symbol(s) DLG4, LLGL, HUGL, HUGL1, HUGL-1
DNA
TYPE functioning gene
SPECIAL FEATURE overlapping, gene in gene, opposite orientation, tail to tail
text overlapping ELI1
STRUCTURE 19.25 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
SMCR5 17p11.2 Smith-Magenis syndrome chromosome region, candidate 5 SREBF1 17p11.2 sterol regulatory element binding transcription factor 1 TOM1L2 17p11.2 target of myb1-like 2 (chicken) DKFZP586M1120 17p11.2 hypothetical protein DKFZp586M1120 ATPAF2 17p11.2 ATP synthase mitochondrial F1 complex assembly factor 2 MGC3048 17p11.2 hypothetical protein MGC3048 DRG2 17p11.2 developmentally regulated GTP binding protein 2 MYO15A 17p11.2 myosin XVA FLJ20308 17p11.2 hypothetical protein FLJ20308 LLGL1 17p11.2 lethal giant larvae homolog 1 (Drosophila) FLII 17p11.2 flightless I homolog (Drosophila) SMCR7 17p12 Smith-Magenis syndrome chromosome region, candidate 7 TOP3A 17p11.2 topoisomerase (DNA) III alpha SMCR8 17p11.2 Smith-Magenis syndrome chromosome region, candidate 8 SHMT1 17p11.2 serine hydroxymethyltransferase 1 (soluble) LOC339237 17p11.2 similar to Envoplakin (210 kDa paraneoplastic pemphigus antigen) (p210) (210 kDa cornified envelope precursor) LOC339240 17p11.2 keratin pseudogene LOC339241 17p11.2 keratin pseudogene LOC339242 17p11.2 similar to Keratin, type I cytoskeletal 14 (Cytokeratin 14) (K14) (CK 14) LOC339243 17p11.2 similar to Keratin, type I cytoskeletal 16 (Cytokeratin 16) (K16) (CK 16) LOC339244 17p11.2 keratin pseudogene LOC252968 17p11.2 karyopherin (importin) beta 2 pseudogene LOC147158 17p11.2 lectin, galactoside-binding, soluble, 9 (galectin 9) pseudogene LOC201288 17p11.2 nitric oxide synthase 2A (inducible, hepatocytes) pseudogene LOC220594 17p11.2 TL132 protein FLJ11800 17p11.2 hypothetical protein FLJ11800 LOC252840 17p11.1 signal recognition particle 68kD pseudogene LOC201287 17p11.2 KIAA0565 related gene FLJ36492 17p11.2 hypothetical protein FLJ36492 FLJ40244 17p11.2 hypothetical protein FLJ40244 LOC388345 17 similar to poly(A) binding protein interacting protein 1 isoform 1; polyadenylate binding protein-interacting protein 1; PABC1-interacting protein 1
regionally located in the Smith-Magenis critical region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
23 - 4225 - 1064 - Koyama (1996)
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • several conserved functional domains found in Lgl, suggesting that these proteins may have closely related functions (Shimanski 2005)
  • HOMOLOGY
    interspecies homolog to drosophila Lgl
    Homologene
    FAMILY
  • WD repeat L(2)GL family
  • CATEGORY structural protein , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • control of cell proliferation
  • its expression increased cell adhesion and decreased cell migration (Shimanski 2005)
  • binds Myosin II and is involved in maintaining cell polarity and epithelial integrity (Shimanski 2005)
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of DLG1/SCRIB/LLGL1 tumour suppressor complex, interacting with tSNARE syntaxin 4 (Massimi 2008)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • non muscle myosin II heavy chain binding
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in Smith-Magenis syndrome
    constitutional somatic mutation      
    mutated by aberrant splicing exclusively in hepatocellular carcinoma (HCC), and involved in HCC progression (Lu 2009)
    tumoral     --low  
    involved in development and progression of colon cancer and malignant melanoma (Tsuruga 2007)
    tumoral     --low  
    loss of expression in endometrial cancer may contribute to lymph node metastasis and it can be a factor of poor prognosis (Tsuruga 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS