FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\GYS19A.UAS
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General Information
Symbol
Hsap\GYS19A.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0283532
Feature type
allele
Associated gene
Hsap\GYS1
Associated Insertion(s)
Carried in Construct
P{UAS-hMGS.9A}
Also Known As
UAS-hMGS-9A
Key Links
Transgenic product class
missense_variant
(Duran et al., 2012)
polypeptide_post_translational_processing_variant
(Duran et al., 2012)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Duran et al., 2012)
polypeptide_post_translational_processing_variant
(Duran et al., 2012)
Mutagen
in vitro construct
(Duran et al., 2012)
Progenitor genotype
Carried in construct
P{UAS-hMGS.9A}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of Hsap\GYS1 that cannot be inactivated by phosphorylation (nine regulatory Ser residues have been mutated to Ala).

(Duran et al., 2012)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\GYS1
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  Lafora disease
      CEA
      (Duran et al., 2012)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      ameliorates  Huntington's disease
      modeled by Hsap\HTTQ93.ex1.UAS
      (Onkar et al., 2023)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      15 day old adults expressing Hsap\GYS19A.Scer\UAS under the control of Scer\GAL4elav.PU during the adult stage (expression limited to this stage using the temperature sensitive Scer\GAL80ts.αTub84B allele) show signs of spongiosis and excessive accumulation of glycogen in the retina.

      Adults expressing Hsap\GYS19A.Scer\UAS under the control of Scer\GAL4elav.PU during the adult stage show a marked decrease in lifespan compared to controls.

      Expression of Hsap\GYS19A.Scer\UAS under the control of Scer\GAL4ple.PF results in a dramatic shortening of lifespan compared to controls.

      (Duran et al., 2012)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Hsap\GYS19A.Scer\UAS
      Hsap\GYS19A.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (3)