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General Information
Name
cancer, epithelial, DLG1-related
FlyBase ID
FBhh0000678
Disease Ontology Term
Parent Disease
OMIM
Overview

The protein encoded by the Drosophila gene dlg1 is a component of the Scribble polarity complex, which plays a key role in determining cell polarity and cell proliferation in epithelial cells. Loss of apical-basal polarity is an early event in the development of epithelial cancers. See also human diseases model reports 'cancer, epithelial, Scribble-complex-related' (FBhh0000586), and 'cancer, epithelial, RAS-DLG1-related' (FBhh0000589).

In human, there are four genes orthologous to Dmel\dlg1, DLG1 (a component of the Scribble polarity complex), DLG2, DLG3, and DLG4. Although the human Hsap\DLG4 gene has been introduced into flies, DLG1 has not. Classical loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for Dmel\dlg1.

Animals homozygous for loss-of-function mutations of Dmel\dlg1 typically die during the larval stage; tumors of the brain and imaginal discs are observed; defects associated with neuromuscular junctions are observed. Knockdown of dlg1 in larval imaginal discs, effected by RNAi, results in apoptosis and an invasion-like phenotype in which cells delaminated and migrated away from the site of origin within the wing disc epithelium; however, most of these animals survive to adulthood, displaying scars along the anterior/posterior boundary of the wing blade, indicating that a mechanism to eliminate the abnormal cells comes into play. Many physical and genetic interactions for Dmel\dlg1 have been described; see below and in the gene report for dlg1.

[updated Nov. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cancer, epithelial, DLG1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

DLG1 encodes an essential multidomain scaffolding protein with multiple roles in normal development. It recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells, and may play roles in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. [from Gene Cards, DLG1; 2017.08.01]

DLG1 is a membrane-associated guanylate kinase (MAGUK). [from NCBI Gene, DLG1; 2017.08.01]

External links
Disease synonyms
carcinoma, DLG1-related
dlg1- tumors
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to one (4 human to 1 Drosophila); the other human genes are DLG4, DLG2, and DLG3.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Groups / Pathways
      Comments on ortholog(s)

      Moderate- to high-scoring ortholog of human DLG1, DLG4, DLG2, and DLG3 (1 Drosophila to 4 human). Dmel\dlg1 shares 40-49% identity and 55-63% similarity with the human genes.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (29 groups)
        protein-protein
        Interacting group
        Assay
        References
        pull down, western blot, x-ray crystallography, anti tag coimmunoprecipitation, two hybrid, cosedimentation, molecular weight, molecular sieving
        proximity ligation assay, fluorescence microscopy, anti bait coimmunoprecipitation, western blot
        anti bait coimmunoprecipitation, western blot, proximity ligation assay, fluorescence microscopy
        enzymatic study, Identification by mass spectrometry
        proximity ligation assay, fluorescence microscopy
        anti bait coimmunoprecipitation, western blot, enzymatic study, autoradiography
        anti tag coimmunoprecipitation, western blot, pull down, anti tag western blot
        two hybrid, anti bait coimmunoprecipitation, western blot
        anti bait coimmunoprecipitation, western blot, pull down, proximity ligation assay, fluorescence microscopy, anti tag coimmunoprecipitation
        two hybrid, pull down, western blot, anti bait coimmunoprecipitation, anti tag coimmunoprecipitation, anti tag western blot
        anti bait coimmunoprecipitation, western blot, proximity ligation assay, fluorescence microscopy
        pull down, molecular weight estimation by staining, anti tag coimmunoprecipitation, western blot
        pull down, anti tag western blot
        anti bait coimmunoprecipitation, western blot
        proximity ligation assay, fluorescence microscopy
        enzymatic study, autoradiography
        two hybrid, anti tag coimmunoprecipitation, western blot, pull down, molecular weight estimation by staining, anti tag western blot, anti bait coimmunoprecipitation
        colocalization, fluorescence microscopy, inferred by author, anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, proximity ligation assay
        isothermal titration calorimetry, predetermined participant, surface plasmon resonance, pull down, molecular weight estimation by staining, anti tag western blot, two hybrid
        two hybrid, anti bait coimmunoprecipitation, western blot
        two hybrid, pull down, autoradiography, western blot, anti bait coimmunoprecipitation
        anti bait coimmunoprecipitation, western blot, two hybrid
        anti tag coimmunoprecipitation, western blot, anti tag western blot, anti bait coimmunoprecipitation
        anti bait coimmunoprecipitation, western blot
        RNA-RNA
        Interacting group
        Assay
        References
        anti tag western blot, luminiscence technology, necessary binding region, western blot
        RNA-protein
        Interacting group
        Assay
        References
        electrophoretic mobility shift assay, autoradiography
        anti bait coimmunoprecipitation, quantitative reverse transcription pcr
        anti tag coimmunoprecipitation, quantitative reverse transcription pcr
        Alleles Reported to Model Human Disease (Disease Ontology) (8 alleles)
        Models Based on Experimental Evidence ( 6 )
        Modifiers Based on Experimental Evidence ( 5 )
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Selected mammalian transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        loss of function allele
        X ray
        loss of function allele
        ethyl methanesulfonate
        Delta2-3 transposase
        amorphic allele - molecular evidence
        ethyl methanesulfonate
        References (28)