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    LLGL1 lethal giant larvae homolog 1 (Drosophila) [ Homo sapiens ]

    Gene ID: 3996, updated on 11-May-2012
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    Summary

    Official Symbol
    LLGL1provided by HGNC
    Official Full Name
    lethal giant larvae homolog 1 (Drosophila)provided by HGNC
    Primary source
    HGNC:6628
    See related
    Ensembl:ENSG00000131899; HPRD:02982; MIM:600966; Vega:OTTHUMG00000059396
    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; 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]
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    Genomic context

    Location :
    17p11.2
    Sequence :
    Chromosome: 17; NC_000017.10 (18128936..18148189)
    See LLGL1 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene myosin XVA Neighboring gene alkB, alkylation repair homolog 5 (E. coli) Neighboring gene uncharacterized LOC100652858 Neighboring gene flightless I homolog (Drosophila) Neighboring gene Smith-Magenis syndrome chromosome region, candidate 7 Neighboring gene topoisomerase (DNA) III alpha Neighboring gene ribosomal protein L7a pseudogene 65

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Kahle JJ, et al. Hum Mol Genet, 2011 Feb 1. PMID 21078624.
    4. Stability and function of mammalian lethal giant larvae-1 oncoprotein are regulated by the scaffolding protein RanBPM. Suresh B, et al. J Biol Chem, 2010 Nov 12. PMID 20829363.
    5. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636.

    See all (25) 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. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Results provide the first evidence that Hugl-1 mRNA is frequently mutated by aberrant splicing exclusively in HCC, which may be involved in HCC progression.
      Title: Aberrant splicing of Hugl-1 is associated with hepatocellular carcinoma progression.
    4. loss of Hugl-1 expression in endometrial cancer may contribute to lymph node metastasis and it can be a factor of poor prognosis.
      Title: Loss of Hugl-1 expression associates with lymph node metastasis in endometrial cancer.
    5. aPKCzeta cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia
      Title: aPKCzeta cortical loading is associated with Lgl cytoplasmic release and tumor growth in Drosophila and human epithelia.
    6. downregulation of Hugl-1 contributes to colorectal cancer progression
      Title: Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer.
    7. Hugl-1 can act as a tumour suppressor in Drosophila and thus is the functional homologue of lgl
      Title: The human protein Hugl-1 substitutes for Drosophila lethal giant larvae tumour suppressor function in vivo.
    8. loss of Hugl-1 expression contributes to melanoma progression
      Title: Expression of Hugl-1 is strongly reduced in malignant melanoma.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q15334 Q96AP0 ACD    HPRD  PubMed  
    Q15334 P15529 CD46    HPRD  PubMed  
    Q15334 Q12846 STX4    HPRD  PubMed  
    BioGRID:110183 BioGRID:107227 CACNA1A    BioGRID  PubMed Two-hybrid 
    BioGRID:110183 BioGRID:117223 GABARAPL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:123873 KBTBD7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:121134 PARD3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:119157 PARD6A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:124145 PARD6B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:124135 PARD6G    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:111570 PRKCI    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:115359 RANBP9    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110183 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110183 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    cortical actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    maintenance of apical/basal cell polarity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cortical actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    myelin sheath abaxonal region IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    lethal(2) giant larvae protein homolog 1
    Names
    lethal(2) giant larvae protein homolog 1
    human homolog to the D-lgl gene protein
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    NCBI Reference Sequences (RefSeq)

    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_004140.3 → NP_004131.3  lethal(2) giant larvae protein homolog 1

      Status: REVIEWED

      Source sequence(s)
      AC127537, BC028037, BC051466, BQ923585, BQ937224
      Consensus CDS
      CCDS32586.1
      UniProtKB/Swiss-Prot
      Q15334
      Related
      ENSP00000321537, OTTHUMP00000065700, ENST00000316843, OTTHUMT00000132067
      Conserved Domains (1) summary
      pfam08366
      Location:276 – 380
      Blast Score: 416
      LLGL; LLGL2

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      18128936..18148189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      17886506..17901442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC109515.6 None
    genomic AC127537.8 (13865..19113) None
    genomic CH471196.2 EAW55657.1
      EAW55658.1
      EAW55659.1
      EAW55660.1
    mRNA BC028037.1 AAH28037.1
    mRNA BC028214.1 AAH28214.1
    mRNA BC051466.1 None
    mRNA BC151838.1 AAI51839.1
    mRNA BQ923585.1 None
    mRNA BQ937224.1 None
    mRNA D50550.1 BAA19516.1
    mRNA X86371.1 CAA60130.1
    other-genetic BC167831.1 AAI67831.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15334.3 GenPept UniProtKB/Swiss-Prot:Q15334
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
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