FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\GBA184GG.UAS.Tag:MYC,Tag:polyHis
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General Information
Symbol
Hsap\GBA184GG.UAS.Tag:MYC,Tag:polyHis
Species
H. sapiens
Name
FlyBase ID
FBal0342198
Feature type
allele
Associated gene
Hsap\GBA1
Associated Insertion(s)
Carried in Construct
P{UAS-hGBA.84GG.mycHis}
Key Links
Transgenic product class
frameshift_truncation
(Maor et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
frameshift_truncation
(Maor et al., 2016)
Mutagen
in vitro construct
(Maor et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-hGBA.84GG.mycHis}
Cytology
Description

UASt regulates expression of the 84GG variant of Hsap\GBA, tagged with Tag:MYC and Tag:polyHis. The 84GG mutation is an insertion of a guanine 84 nucleotides downstream from the first initiator methionine of the Hsap\GBA mRNA, resulting in premature protein termination, and has been widely observed among Parkinson disease patients.

(Maor et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\GBA1
Tagged with
Tag:MYC
Tag:polyHis
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
      (Maor 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.
      (Maor et al., 2016)
      GBA1:p.Leu29fs
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GBA:p.Leu29AlafsTer18
      GBA:p.Leu29, frameshift
      GBA:p.Leu29fs
      GBA1:p.Leu29, frameshift
      GBA1:p.Leu29AlafsTer18
      Associated human disease model(s)
      External database links
      ClinVar: GBA_4302
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of Hsap\GBA84GG.UAS.Tag:MYC,Tag:polyHis under the control of Scer\GAL4Ddc.PL induces a progressive decrease in the climbing ability of adult, but does not seem to have an obvious effect on the number of adult dopaminergic neurons (total neurons and PPL1, PPM1/2 and PPM3 cluster neurons), as compared to controls.

      (Maor 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 (2)
      Reported As
      Symbol Synonym
      Hsap\GBA184GG.UAS.Tag:MYC,Tag:polyHis
      Hsap\GBA84GG.UAS.Tag:MYC,Tag:polyHis
      Name Synonyms
      Secondary FlyBase IDs
        References (2)