FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\SNCAA53T.UAS.cKa
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General Information
Symbol
Hsap\SNCAA53T.UAS.cKa
Species
H. sapiens
Name
FlyBase ID
FBal0269386
Feature type
allele
Associated gene
Hsap\SNCA
Associated Insertion(s)
Carried in Construct
M{UAS-αSyn.A53T}
Key Links
Transgenic product class
missense_variant
(Karpinar et al., 2009)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Karpinar et al., 2009)
Mutagen
in vitro construct
(Karpinar et al., 2009)
Progenitor genotype
Carried in construct
M{UAS-αSyn.A53T}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of Hsap\SNCA (amino acid replacement A53T).

(Karpinar et al., 2009)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\SNCA
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Parkinson's disease
      is ameliorated by Hsap\TRAP1UAS.cBa
      (Butler et al., 2012)
      is exacerbated by Trap1KG06242
      (Butler et al., 2012)
      Comments on Models/Modifiers Based on Experimental Evidence ( 2 )
       

      Targeted expression of Hsap\SNCAA53T.Scer\UAS.cKa not only recapitulates Parkinson's disease motor symptoms but also the preceding non-motor symptoms such as an abnormal sleep-like behavior, altered locomotor activity and abnormal circadian periodicity.

      (Gajula Balija et al., 2011)

      Mutations in Hsap\SNCA (based on a structure-based design rationale) which increase neurotoxicity, show reduced fibril and β-structure formation and increased soluble oligomers in vitro.

      (Karpinar et al., 2009)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Karpinar et al., 2009)
      SNCA:p.Ala53Thr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SNCA_14007
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\SNCAA53T.Scer\UAS.cKa in the nervous system, under the control of Scer\GAL4elav-C155, results in climbing defects. Only 38% of Hsap\SNCAA53T.Scer\UAS.cKa expressing flies retain some climbing ability by day 27, compared to 72% of controls. When reared on a medium supplemented with mannitol, these flies gain almost complete phenotypic recovery, with 70% climbing ability at day 27. Mannitol has no effect on control flies. Treatment with mannitol reduces the level of aggregated Hsap\SNCA in the fly brain.

      (Shaltiel-Karyo et al., 2013)

      Expression of two copies of Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL results in a significant decrease in longevity (flies expressing one copy of Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL have normal longevity).

      The number of ple-positive neurons in the PPM1/2 cluster is reduced compared to wild type in adults expressing Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL.

      Adults expressing Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL show an age-related deficit in climbing ability.

      (Butler et al., 2012)

      Expression of Hsap\SNCAA53T.Scer\UAS.cKa in serotonergic and dopaminergic neurons, under the control of Scer\GAL4Ddc.PL, leads to a mild increase in both the number and length of sleep episodes respectively, when compared to controls. The overall level of activity is not affected.

      (Gajula Balija et al., 2011)

      The expression of Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL or Scer\GAL4elav.PU results in significant decreases in adult lifespan and in adult locomotor performance in negative geotaxis assays, respectively, as compared to controls.

      (Karpinar et al., 2009)
      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

      Co-expression of Hsap\TRAP1Scer\UAS.cBa suppresses the reduction in the number of ple-positive neurons in the PPM1/2 cluster which is seen in adults expressing Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL.

      Co-expression of Hsap\TRAP1Scer\UAS.cBa significantly rescue the age-related deficit in climbing ability seen in adults expressing Hsap\SNCAA53T.Scer\UAS.cKa under the control of Scer\GAL4Ddc.PL.

      (Butler et al., 2012)
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\SNCAA53T.Scer\UAS.cKa
      Hsap\SNCAA53T.UAS.cKa
      αsynA53T
      (Briffa et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (7)