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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 Snapshot
      In progress.Contributions welcome.
      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
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (28 groups)
      protein-protein
      Interacting group
      Assay
      References
      pull down, western blot, cosedimentation, molecular weight, anti tag coimmunoprecipitation, x-ray crystallography, molecular sieving, two hybrid
      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
      enzymatic study, autoradiography, anti bait coimmunoprecipitation, western blot
      pull down, anti tag western blot, anti tag coimmunoprecipitation, western blot
      anti bait coimmunoprecipitation, western blot, two hybrid
      proximity ligation assay, fluorescence microscopy, anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation, pull down
      anti bait coimmunoprecipitation, western blot, two hybrid, pull down, anti tag coimmunoprecipitation, anti tag western blot
      anti bait coimmunoprecipitation, western blot, proximity ligation assay, fluorescence microscopy
      anti tag coimmunoprecipitation, western blot, pull down, molecular weight estimation by staining
      pull down, anti tag western blot
      anti bait coimmunoprecipitation, western blot
      proximity ligation assay, fluorescence microscopy
      enzymatic study, autoradiography
      pull down, molecular weight estimation by staining, two hybrid, anti tag western blot, anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation
      proximity ligation assay, fluorescence microscopy, anti tag coimmunoprecipitation, western blot, anti bait coimmunoprecipitation
      two hybrid, pull down, molecular weight estimation by staining, anti tag western blot, surface plasmon resonance, predetermined participant, isothermal titration calorimetry
      two hybrid, anti bait coimmunoprecipitation, western blot
      two hybrid, anti bait coimmunoprecipitation, western blot, pull down, autoradiography
      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
      western blot, anti tag western blot, luminiscence technology, necessary binding region
      RNA-protein
      Interacting group
      Assay
      References
      electrophoretic mobility shift assay, autoradiography
      anti bait coimmunoprecipitation, quantitative reverse transcription pcr
      Alleles Reported to Model Human Disease (Disease Ontology) (7 alleles)
      Models Based on Experimental Evidence ( 6 )
      Modifiers Based on Experimental Evidence ( 4 )
      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
      References (18)