FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\CACNA1AUAS.α1ACT.33Q
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General Information
Symbol
Hsap\CACNA1AUAS.α1ACT.33Q
Species
H. sapiens
Name
FlyBase ID
FBal0343880
Feature type
allele
Associated gene
Hsap\CACNA1A
Associated Insertion(s)
Carried in Construct
P{UAS-α1ACT.33Q}
Key Links
Transgenic product class
inframe_deletion
(Tsou et al., 2016)
trinucleotide_repeat_expansion
(Tsou et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Tsou et al., 2016)
trinucleotide_repeat_expansion
(Tsou et al., 2016)
Mutagen
in vitro construct
(Tsou et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-α1ACT.33Q}
Cytology
Description

UAS regulates expression of the DNA sequence covering exon 40 to the 3' end of the bicistronic Hsap\CACNA1A gene (i.e. the 'α1ACT' product) containing 33 CAG/Q repeats. (The normal non-pathogenic number of repeats is 11Q, while Spinocerebellar ataxia type 6 (SCA6) results from a polyQ tract of 19-33 in patients.)

(Tsou et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\CACNA1A
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  spinocerebellar ataxia 6
      CEA
      (Tsou et al., 2016)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Tsou et al., 2016)

      This construct uses the α1ACT short isoform of CACNA1A; the primary variant description is relative to that isoform.

      CACNA1A(α1ACT):p.Gln354[33]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CACNA1A:p.Gln2313[33Gln]
      CACNA1A(&agr1ACT):p.Gln354[33Gln]
      CACNA1A,(CAG)n REPEAT EXPANSION
      CACNA1A:p.Gln2313[33]
      CACNA1A(&agr1ACT):p.Gln354[33]
      CACNA1A(α1ACT):p.Gln354[33Gln]
      Associated human disease model(s)
      External database links
      ClinVar: CACNA1A_562099
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Individuals expressing Hsap\CACNA1AUAS.α1ACT.33Q under the control of Scer\GAL4sqh.PW develop normally and eclose but have shorter lifespan. Expression driven by Scer\GAL4sqh.PW results in eye degeneration, with some eye depigmentation by week 8, loss of inter-ommatidial boundaries, and accumulation of densely-staining bodies.

      (Tsou et al., 2016)
      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 (1)
      Reported As
      Symbol Synonym
      Hsap\CACNA1AUAS.α1ACT.33Q
      Name Synonyms
      Secondary FlyBase IDs
        References (2)