FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\GBA1L444P.UAS
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General Information
Symbol
Hsap\GBA1L444P.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0321730
Feature type
allele
Associated gene
Hsap\GBA1
Associated Insertion(s)
Carried in Construct
M{UAS-hGBA.L444P}
Key Links
Transgenic product class
missense_variant
(Sanchez-Martinez et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Sanchez-Martinez et al., 2016)
Mutagen
in vitro construct
(Sanchez-Martinez et al., 2016)
Progenitor genotype
Carried in construct
M{UAS-hGBA.L444P}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\GBA carrying the amino acid replacement L444P (mutation associated with Parkinson disease).

(Sanchez-Martinez et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\GBA1
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  Parkinson's disease
      CEA
      (Sanchez-Martinez 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.
      (Sanchez-Martinez et al., 2016)
      GBA1:p.Leu483Pro
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GBA:p.Leu396Pro
      GBA:p.Leu434Pro
      GBA:p.Leu444Pro
      GBA:p.Leu483Pro
      GBA1:p.Leu396Pro
      GBA1:p.Leu434Pro
      GBA1:p.Leu444Pro
      GBA1:p.Leu483Pro
      L444P
      Associated human disease model(s)
      External database links
      ClinVar: GBA_4288
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\GBAL444P.Scer\UAS under the control of Scer\GAL4elav.PU results in progressive climbing defects, decreased numbers of dopaminergic neurons in 30 day old flies, abnormal swellings in the endoplasmic reticulum of the third instar salivary gland, but no significant difference in lifespan, and does not result in any overt degeneration of the eye, even after extensive aging, as compared to controls.

      (Sanchez-Martinez 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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Hsap\GBA1L444P.UAS
      Hsap\GBAL444P.Scer\UAS
      Hsap\GBAL444P.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)