FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\TOR1AΔE.UAS.cWa
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General Information
Symbol
Hsap\TOR1AΔE.UAS.cWa
Species
H. sapiens
Name
FlyBase ID
FBal0324789
Feature type
allele
Associated gene
Hsap\TOR1A
Associated Insertion(s)
Carried in Construct
P{UAS-Hsap\TOR1A.ΔE.W}
Key Links
Transgenic product class
dominant_negative_variant
(Wakabayashi-Ito et al., 2015)
inframe_deletion
(Wakabayashi-Ito et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
dominant_negative_variant
(Wakabayashi-Ito et al., 2015)
inframe_deletion
(Wakabayashi-Ito et al., 2015)
Mutagen
in vitro construct
(Wakabayashi-Ito et al., 2015)
Progenitor genotype
Carried in construct
P{UAS-Hsap\TOR1A.ΔE.W}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\TOR1A carrying a 3bp deletion that removes the E302/303 residue. This lesion is associated with autosomal dominant torsion dystonia-1. The protein acts as a dominant negative in flies.

(Wakabayashi-Ito et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\TOR1A
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Most cases of TOR1A (DYT1)-induced dystonia in human patients are linked to a deletion resulting in a loss of one of a pair of glutamic acid residues at the positions 302/303. Ectopic expression of a human transgene Hsap\TOR1AΔE.Scer\UAS.cWa bearing this deletion fails to improve the locomotion deficit in a fly model of dystonia, the TorsinKO13 mutants.

      (Wakabayashi-Ito et al., 2015)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Wakabayashi-Ito et al., 2015)
      TOR1A:p.Glu303del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TOR1A:p.Glu302del
      Associated human disease model(s)
      External database links
      ClinVar: TOR1A_5180
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\TOR1AScer\UAS.cWa under the control of Scer\GAL4elav.PU results in deficit in larval (decreased peristaltic rate in third instar larvae) as well as adult locomotion.

      (Wakabayashi-Ito et al., 2015)
      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

      The deficit in larval (decreased peristaltic rate) as well as adult locomotion characteristic for TorsinKO13/Y hemizygotes cannot be rescued by expression of Hsap\TOR1AΔE.Scer\UAS.cWa either alone or in combination with Hsap\TOR1AScer\UAS.cWa under the control of Scer\GAL4elav.PU in the mutant background.

      (Wakabayashi-Ito et al., 2015)
      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\TOR1AΔE.Scer\UAS.cWa
      Hsap\TOR1AΔE.UAS.cWa
      Name Synonyms
      Secondary FlyBase IDs
        References (2)