FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\SPASTQ45.UAS
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General Information
Symbol
Hsap\SPASTQ45.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0264227
Feature type
allele
Associated gene
Hsap\SPAST
Associated Insertion(s)
Carried in Construct
P{UAS-SPAST.Q45}
Key Links
Transgenic product class
missense_variant
(Du et al., 2010)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Du et al., 2010)
Mutagen
in vitro construct
(Du et al., 2010)
Progenitor genotype
Carried in construct
P{UAS-SPAST.Q45}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\SPAST containing an amino acid substitution (P45Q).

(Du et al., 2010)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\SPAST
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 ( 1 )
      Disease
      Interaction
      References
      exacerbates  hereditary spastic paraplegia
      modeled by Hsap\SPASTR388.UAS.Venus, spas5.75
      (Du et al., 2010)
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Hsap\SPASTQ45.Scer\UAS models a silent human polymorphism that when in combination with a hereditary spastic paraplegia-causing mutation, such as K388R as modelled by Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus), causes earlier onset and increased severity of the disease. The disease phenotype is examined in spas null (spas5.75) flies.

      (Du et al., 2010)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Du et al., 2010)
      SPAST:p.Pro45Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPAST_5672
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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

      Expression of Hsap\SPASTQ45.Scer\UAS under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75 homozygotes. The bouton number and terminal bouton microtubule distribution defects seen in spas5.75 are also partially rescued.

      Co-expression of Hsap\SPASTQ45.Scer\UAS and Hsap\SPASTR388.Scer\UAS.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4elav.Switch.PO partially rescues the eclosion defects seen in spas5.75 homozygotes, although the rescue is less efficient than when Hsap\SPASTQ45.Scer\UAS is expressed alone. The bouton number and terminal bouton microtubule distribution phenotypes are also partially rescued. The number of boutons is slightly less than in spas5.75 and those that are seen are small and clustered.

      (Du et al., 2010)
      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\SPASTQ45.Scer\UAS
      Hsap\SPASTQ45.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)