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General Information
Name
cancer, epithelial, DST-related
FlyBase ID
FBhh0001291
Disease Ontology Term
Parent Disease
OMIM
Overview

This report is based upon experiments in Drosophila designed to identify genes involved in later stages of cancer development, including cellular acquisition of invasive behavior. The Drosophila gene shot was identified in this screen. Dmel\shot encodes a member of the plakin protein family, large proteins that link cytoskeletal elements to each other and to specialized sites at the plasma membrane. Multiple genetic reagents including classical loss-of-functions mutations, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for shot.

There are two genes orthologous to Dmel\shot in human, DST and MACF1. Neither genes has been introduced into flies. Using a breast cancer cell line, the effect of knockdown of DST was assessed; a significant increase in both invasion and migration was observed. The MACF1 gene was not tested in this assay.

[updated Nov. 2020 by FlyBase; FBrf0222196]

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

Plakins are giant-sized (200–800 kDa) modular proteins that link cytoskeletal elements to each other and to specialized sites at the plasma membrane. Maintaining such linkages lends mechanical strength to cells and tissue structures and ensures proper cellular development. [https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/plakin; 2020.11.28]

DST encodes a member of the plakin protein family of adhesion junction plaque proteins. The DST protein act as a cytoskeletal linker protein and as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. [Gene Cards, DST; 2020.11.28]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to one: 2 human genes to 1 Drosophila gene; additional less closely related genes in human.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      short stop (shot) encodes a member of the spectraplakin family of large cytoskeletal linker molecules. It binds both actin and microtubules, as well as scaffold proteins, certain signalling factors and calcium. It plays developmental and maintenance roles in the nervous system, the epidermis, at muscle attachments, the foregut, the wing, tracheae and oocytes. [Date last reviewed: 2019-03-14]
      Gene Groups / Pathways
        Comments on ortholog(s)

        Moderate- to high-scoring ortholog of human DST and MACF1 (1 Drosophila to 2 human; additional less closely related genes in human). Dmel\shot shares 24% identity and 41% similarity with human DST.

        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 (12 groups)
        protein-protein
        Interacting group
        Assay
        References
        pull down, molecular weight estimation by staining, anti tag coimmunoprecipitation, anti tag western blot, bimolecular fluorescence complementation, fluorescence microscopy
        anti tag coimmunoprecipitation, western blot
        cosedimentation in solution, western blot, two hybrid, anti tag coimmunoprecipitation
        cosedimentation in solution, western blot, anti tag coimmunoprecipitation, two hybrid
        pull down, anti tag western blot
        cosedimentation in solution, western blot
        cosedimentation in solution, western blot
        anti tag coimmunoprecipitation, western blot, anti tag western blot, pull down, molecular weight estimation by staining, bimolecular fluorescence complementation, fluorescence microscopy
        anti tag coimmunoprecipitation, anti tag western blot
        two hybrid, anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography
        anti tag coimmunoprecipitation, western blot
        anti tag coimmunoprecipitation, western blot
        Alleles Reported to Model Human Disease (Disease Ontology) (4 alleles)
        Models Based on Experimental Evidence ( 2 )
        Allele
        Disease
        Evidence
        References
        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
        diepoxybutane
        loss of function allele
        ethyl methanesulfonate
        loss of function allele
        CRISPR/Cas9
        References (3)